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Background: Hemophilia is characterized by degenerative joint damage. Patients with hemophilic arthropathy present joint damage, reduced range of motion, and decreased strength and functional capacity. Myofascial release therapy aims to decrease pain and improve tissue mobility and functionality. Objectives: To evaluate the safety and efficacy of myofascial release therapy in patients with hemophilic ankle arthropathy. Method: Single-blind randomized controlled trial. Fifty-eight adult patients with hemophilia were randomly allocated to the experimental group (myofascial release therapy with foam roller) or the control group (no intervention whatsoever). The daily home protocol of myofascial release therapy for the lower limbs using a foam roller lasted eight consecutive weeks. The primary variable was the safety of myofascial release therapy (weekly telephone follow-up). The secondary variables were pain intensity (visual analog scale), range of motion (goniometer), functional capacity (2-Minute Walk Test) and muscle strength (dynamometer), at baseline and at 8 and 10 weeks. Results: During the experimental phase, none of the patients in the experimental group developed ankle hemarthrosis. There were statistically significant changes in time*group interaction in ankle dorsal flexion (F[1.75] = 10.72; p <.001), functional capacity (F[1.16] = 5.24; p =.009) and gastrocnemius strength (F[2] = 26.01; p <.001). The effect size of the changes after the intervention was medium-large in pain intensity (d = −1.77), functional capacity (d = 1.34) and gastrocnemius strength (d = 0.76). Conclusion: Myofascial release therapy is a safe form of physical therapy for patients with hemophilia. Myofascial release therapy can effectively complement prophylactic pharmacological treatment in patients with hemophilic arthropathy, improving range of motion in dorsal flexion, functional capacity and gastrocnemius strength. [ABSTRACT FROM AUTHOR]

Objective: Acquired hemophilia A (AHA) is a rare autoimmune disease characterized by the presence of autoantibodies against coagulation factor VIII, leading to spontaneous hemorrhage in patients without a prior family or personal history of bleeding. This study describes the demographics, diagnosis, underlying disorders, bleeding characteristics, treatment, and outcomes of 41 AHA patients together with specific case reports. Materials and Methods: Diagnosis and treatment of these patients occurred between 2005 and 2023. The median age at diagnosis was 67.8 (range: 15-93) years. Among the 41 patients, 10 (24%) cases were idiopathic, 4 (10%) were postpartum, 18 (44%) involved autoimmune diseases, and 9 (22%) involved a diagnosis of cancer. Results: The diagnostic delay exceeded 30 days in 15 of the 41 cases (36.5%). A total of 38 of the 41 (93%) patients presented with spontaneous bleeding, with mucocutaneous bleeding being the most common presentation (23/41, 56%). Four patients experienced postpartum bleeding. Clinical remission was achieved by 100% of patients and no patients died. Conclusion: Hemostatic and immunosuppressive therapy is essential in AHA, and it should be started as soon as possible in patients with bleeding. However, a significant delay in diagnosis was observed in these cases. The absence of mortality is likely attributable to the management of the disease within a specialized hemostasis and thrombosis unit, which offers a clinical ward, a specialized laboratory, and a dedicated ambulatory service. The Italian Society for the Study of Haemostasis and Thrombosis is working to secure recognition of this essential role in every hospital. [ABSTRACT FROM AUTHOR]

Background: Hemophilia type A and B is associated with spontaneous bleeding in muscle tissues and joints. Acute hemarthrosis, representing 70–80% of all bleedings in severe hemophilia patients, is extremely painful. When surgical procedures are needed in hemophiliac patients, perioperative management should be planned with a multidisciplinary team. Our narrative review, through a rigorous analysis of the current literature, focuses on pain management in hemophiliac patients. Methods: The report synthesizes a literature review on hemophilia, adapting PRISMA guidelines. It identifies a research question on surgical procedures and perioperative pain management. Various sources, including electronic databases, are utilized. Study inclusion criteria are defined based on the research question. Forty studies are included. A detailed study selection is illustrated. Results: Guidelines for managing acute postoperative pain in the general population advocate for a multimodal analgesic administration to enhance synergistic benefits, reduce opioid requirements, and minimize side effects. Recent recommendations from the World Federation of Hemophilia (WFH) for postoperative pain management in hemophilia patients suggest tailoring treatment based on pain levels, in coordination with anesthesiologists. Conclusions: Pain management in hemophiliac patients undergoing orthopedic interventions requires a multidisciplinary approach, with further research needed to define a reliable global standard of treatment. [ABSTRACT FROM AUTHOR]

To explore how plyometric-based hydro-kinesiotherapy (Plyo-HKT) would affect pain, muscle strength, postural stability, and functional performance in a convenience sample of children with hemophilic knee arthropathy (HKA). Forty-eight children with HKA (age: 8–16 years) were randomly allocated to the Plyo-HKT group (n = 24; underwent the Plyo-HKT for 45 min, twice/week over 12 wk in succession) or the comparison group (n = 24; performed the standard exercise rehabilitation at an equivalent frequency and duration). Pain, peak concentric torque of quadriceps and hamstring (produced at two angular velocities: 120 and 180 o/sec), dynamic limits of postural stability (DLPS), and functional performance [Functional Independence Score in Hemophilia (FISH) and 6-Minute Walk Test (6-MWT)] were assessed pre- and post-intervention. In contrast with the comparison group, the Plyo-HKT group achieved more favorable pre-to-post changes in pain (p =.028, η2p = 0.10), peak torque of quadriceps [120°/sec (p =.007, η2P = 0.15); 180°/sec (p =.011, η2P = 0.13)] and hamstring [120°/sec (p =.024, η2P = 0.11); 180°/sec (p =.036, η2P = 0.09)], DLPSdirectional [forward (p =.007, η2P = 0.15); backward (p =.013, η2P = 0.12); affected side (p =.008, η2P = 0.14); non-affected side (p =.002, η2P = 0.20)], DLPSoverall (p <.001, η2P = 0.32), and functional performance [FISH (p <.001, η2p = 0.26); 6-MWT (p =.002, η2p = 0.19)]. Plyo-HKT is likely helpful for reducing pain, improving strength, enhancing postural stability, and boosting functional capabilities in children with HKA. Physical rehabilitation practitioners should, therefore, consider this intervention strategy. [ABSTRACT FROM AUTHOR]

This study presents a detailed case analysis of a 40-year-old male patient with hemophilia A and severe chronic elbow arthropathy, exploring the surgical challenges and outcomes within the context of the current literature. The patient, with a history of multiple comorbidities including Hodgkin's lymphoma and cardiomyopathy, exhibited significant joint damage and functional impairment. A comprehensive approach was employed, collecting all relevant clinical data, including radiographic and MRI findings, to inform treatment decisions. Clinical findings and treatment decisions are presented as they occurred in real time, simulating the clinical reasoning process. Subsequent references to the clinical and instrumental findings as well therapeutic interventions are discussed in light of the current literature to reinforce the decision-making framework. This report underscores the importance of multidisciplinary care in optimizing patient outcomes and contributes to the ongoing discourse on the management of advanced musculoskeletal conditions in hemophilic patients. The findings emphasize the necessity for early intervention and specialized care to mitigate complications and improve long-term prognosis. [ABSTRACT FROM AUTHOR]

BACKGROUND: Hemophilic arthropathy is a detrimental condition that crucially affects functional outcomes in hemophilic patients. In recent years, due to the advances in systemic therapies, growing attention has been raised in the rehabilitation field in order to improve functional outcomes of hemophilic patients. However, the optimal rehabilitation modalities in these patients are far from being fully characterized. OBJECTIVE: The present study aimed to assess the effects of different rehabilitation interventions on physical functioning and health-related quality of life of hemophilic arthropathic patients. METHODS: The review followed the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) statement. Five databases were systematically searched for randomized controlled trials (RCTs) published until June 22nd, 2023. The selection criteria included adult patients with hemophilia A and B receiving rehabilitation interventions. The outcomes were muscle strength, physical function, pain intensity, physical performance, and health-related quality of life. RESULTS: Out of 1,743 identified records, 17 studies were included in the qualitative synthesis. Rehabilitation interventions were categorized into exercise intervention, fascial therapy, and multimodal intervention. The findings suggested positive outcomes in terms of muscle modifications, range of motion improvements, joint health enhancements, pain intensity reduction, and quality of life improvements. More in detail, meta-analyses showed significant improvements in pain intensity [ES: - 1.10 cm (- 1.37, - 0.82), p < 0.00001], joint health [ES: - 1.10 (- 1.38, - 0.82), p < 0.00001], In accordance, exercise interventions showed significant benefits in terms of joint health [ES: - 2.54 (- 3.25, - 1.83), p < 0.00001)] and quality of life [ES: 1.17 (0.48, 1.86), p < 0.0000)]. CONCLUSION: Rehabilitation interventions have a positive impact on functional outcomes and health-related quality of life of hemophilic arthropathic patients. Further studies are needed to better elucidate the role of a comprehensive intervention combining different rehabilitation approaches to treat hemophilic arthropathy. [ABSTRACT FROM AUTHOR]

Background Circumcision is one of the most common surgical procedures in boys in Indonesia. In cases patient with hemophilia (PWH), doctors tend to avoid this procedure due to increased bleeding tendency. In 2007, we developed a protocol for clotting factor concentrate (CFC) administration for circumcision in PWH, namely, the "Yogyakarta Method." Objective To evaluate the outcomes of the Yogyakarta Method for circumcising PWH. Methods This descriptive study was based on medical records of PWH who underwent circumcision at Dr. Sardjito Hospital (DSH), Yogyakarta and 3 surrounding hospitals under DSH supervision from 2008-2017 and 2018-2022. Diagnoses of hemophilia were based on clinical findings and factor assays. Subjects with hemophilia A received factor VIII (25 IU/kg/dose) and those with hemophilia B received factor IX (50 IU/kg/dose) before, during and after the procedure. In addition, patients received tranexamic acid (15 mg/kg/dose). Circumcision was performed by a pediatric surgeon or urologist. Results From 2008-2017, 28 PWH underwent circumcision, 14/28 of whom were in DSH. Twenty-six patients had hemophilia A and 2 had hemophilia B. Their severities were mild (12 subjects), moderate (10 subjects), and severe (6 subjects). Subjects' median age was 10.5 (5-19) years and their median CFC use was 8 (range 7-10) doses in hemophilia A and 4 (range 4-5) doses in hemophilia B patients. Three of 28 PWH had bleeding episodes after the procedure. Following the encouraging results from the initial 2008-2017 study period, most of PWH circumcised in 2018-2022 underwent the procedure in the same 3 district hospitals rather than at DSH (21/28 subjects), and had similar CFC consumption. Only 1 bleeding episode occurred after the procedure during the second study period. Conclusion The Yogyakarta method is safe and sufficient to control bleeding in circumcision of PWH. This method is also suitable in a district hospital setting. [ABSTRACT FROM AUTHOR]

Acquired hemophilia is caused by acquired autoantibodies to 1 of the factors of the coagulation cascade, usually factor VIII or IX, and is an exceedingly rare phenomenon in children. The finding of an acquired factor VIII inhibitor in a pediatric patient with idiopathic multicentric Castleman disease has never been reported. Patients with acquired hemophilia can have life-threatening bleeds that are refractory to blood product support, requiring bypassing agents to manage bleeding symptoms. We present the novel finding of acquired hemophilia resulting from an autoantibody to factor VIII in a pediatric patient with idiopathic multicentric Castleman disease and discuss the optimal management of bleeding in a patient with acquired hemophilia. [ABSTRACT FROM AUTHOR]

Introduction: Patients with haemophilia (PWH) may have lower bone mineral density (BMD). The risk of low BMD in PWH has not been comprehensively analysed. This study aimed to examine the risk of low BMD and changes in BMD in PWH. Methods: A comprehensive systematic search was performed in 4 databases: PubMed, Embase, Web of Science, and Cochrane Library. The last search was carried out on 11 December 2022. Review Manager 5.4 and Stata 16 were used for meta-analysis. Odds ratios were calculated by the incidence of low BMD between the haemophilia and control groups in each study. A meta-analysis of the odds ratios for each study was performed to estimate pooled odds ratios. Fixed effects models or random effects models were used to assess outcomes. Heterogeneity was evaluated using Higgins' I2. Subgroup analysis and sensitivity analysis were performed to interpret the potential source of heterogeneity. A funnel plot, Egger's regression test, and the trim-and-fill method were used to assess publication bias. Results: 19 of 793 studies, published between 2004 and 2022, that were identified by search strategy were included in this meta-analysis. The risk for low BMD was approximately four times higher compared to controls. PWH have significantly lower lumbar spine, femoral neck, and total hip BMD. Subgroup analysis showed that the risk of low BMD did not increase significantly in developed countries. Very low heterogeneity was observed in the meta-analysis of the risk of low BMD. The result from Egger's regression test suggested that there may be publication bias. However, the meta-analysis results did not alter after the trim-and-fill correction and the findings were robust. Conclusion: Haemophilia was associated with an increased risk of low BMD. However, the risk of low BMD did not increase significantly in developed countries. And BMD was reduced in PWH, regardless of age, region, or economic ability. For PWH, our concerns should extend beyond bleeding and osteoarthritis to encompass BMD starting at a young age. [ABSTRACT FROM AUTHOR]

Background: Regular prophylaxis with activated prothrombin complex concentrates (aPCCs) is effective in adult patients with hemophilia with inhibitors; however, data in children are scarce. Methods: This was a single‐center retrospective study at Saitama Children's Medical Center. Patients with severe and moderate hemophilia with inhibitors aged <15 years at the start of aPCCs prophylaxis were included. Medical records were retrospectively reviewed. Results: We treated nine pediatric patients with hemophilia with inhibitors (median age, 1.9 years; age range, 1.3–12.9 years; inhibitor titers before treatment with aPCCs, 5.9–69 BU/mL) using prophylactic aPCCs (doses, 50–100 U/kg; 2–3 times/week). The median prophylactic period was 13 months (range: 5–31 months). The median annualized bleeding rate (ABR) during prophylactic treatment with aPCCs was 2 (range, 0–17). In four patients, ABR was reduced by 19%–100% with prophylactic aPCCs compared to on‐demand aPCCs. An adverse effect of treatment was that a patient with hemophilia B developed nephrotic syndrome 34 months after starting regular prophylaxis with aPCCs. Conclusions: Regular prophylactic aPCCs reduced the ABR even in younger children with hemophilia A and B. Serious adverse events include nephrotic syndrome, which requires caution. [ABSTRACT FROM AUTHOR]

Objective: This study described the prevalence of and correlates of depression and anxiety in adult patients with hemophilia A and B. Methods: In this cross-sectional study, we investigated patients with hemophilia who were being seen at an adult hemophilia center in Turkey. Participants were screened for depression and anxiety during their annual clinic visit, which included administration of the Beck Depression Inventory and State-Trait Anxiety Scale. Results: Of the 90 patients, 22 (24.4%) met criteria for significant depressive symptoms and 67 (74.4%) met criteria for significant anxiety symptoms. There were no significant associations between depression and any psychosocial or clinical characteristics or adherence to hemophilia prophylaxis, except for educational status. No association was found between state and trait anxiety scores and psychosocial and clinical characteristics other than hemophilia type. After adjusting for confounding factors, multivariable analysis showed that high school education level was associated with depression (OR: 1.87, CI: 1.31–2.36, P =.010) and type B hemophilia was associated with anxiety (OR: 1.32, CI: 1.09–1.75, P =.042). Conclusion: Depression and anxiety are major psychiatric comorbidities in patients with hemophilia in Turkey. Routine evaluation for mood and anxiety disorders are important in the routine care of patients with haemophilia. [ABSTRACT FROM AUTHOR]

Background: In patients with severe hemophilia A prolonged bleeding may occur even in cases of minor trauma or surgery. Objective: To investigate the feasibility and efficacy of a recombinant extended half-life (EHL) FVIII concentrate for perioperative bleeding management in a patient with severe hemophilia A undergoing liver transplantation. Material and methods: Prior to transplantation FVIII activity and perioperatively required FVIII supply were estimated. In an individualized approach efmoroctocog alfa was supplemented if the intrinsic clotting time in the thrombelastometry was > 170 s. Results: The patient perioperatively received a total of 28,000 IU efmoroctocog alfa. No signs of hemorrhage or complications were detected and no further intervention was necessary. Conclusion: The present case demonstrates that the use of an EHL FVIII is suitable for a successful perioperative bleeding control even in hemophilia patients at a high bleeding risk during major surgery. Due to the EHL constant FVIII levels could be achieved with relatively few injections. In order to confirm the obtained results, more real-world data in different operative settings are essential. Further research is needed on the use of thrombelastometry to guide substitution of factor VIII perioperatively. [ABSTRACT FROM AUTHOR]

Background: Arthropathy is a common complication in patients with hemophilia. We examined the prevalence of this skeletal complication in patients with hemophilia who were registered at a Comprehensive Hemophilia Center in Shiraz, Southern Iran. Materials and Methods: In this cross-sectional study, an orthopedic specialist visited 448 patients and conducted screenings for skeletal complications. The assessment included evaluating the type of hemophilia, disease severity, treatment modality, the presence of inhibitors, and the identification of skeletal complications. Results: Ninety patients with hemophilia A, with a mean age (SD) of 31.6 (14.4) years, and 10 patients with hemophilia B, with a mean age of 30.5 (20.6) years, were assessed. The most frequently affected joints were the knee and ankle joints. In the univariate analysis, patients with severe disease were more likely to exhibit synovitis, a target joint, and bone disease compared to patients with non-severe disease. Additionally, a history of treated or active hepatitis and an annual bleeding rate showed significant associations with the target joint. In the multivariable logistic regression analysis, disease severity (OR 14.43, 95% CI 1.6–129.6) and a higher age at diagnosis (OR 1.06, 95% CI 1.00–1.13) increased the likelihood of developing osteoporosis. A history of hepatitis (OR 3.67, 95% CI 1.28–10.48) was identified as an independent risk factor for the target joint. Conclusion: Skeletal complications are a common occurrence in hemophilia. Regular consultations with orthopedic specialists, focusing on bleeding control and hepatitis prevention, are essential for reducing the impact of this debilitating complication. [ABSTRACT FROM AUTHOR]

Objective: This study aims to evaluate the caregiver burden of parents of hemophilia patients and related factors in the southeast region of Turkey, where access to a regular healthcare facility is more complicated than in other areas. Materials and Methods: Twenty-six caregivers of patients with hemophilia were consecutively enrolled in this non-interventional study. Caregiver burden is measured using the “Hemophilia- Associated Caregiver Burden Scale” (HEMOCAB). Results: Hemophilia affects 65.4% of caregivers emotionally, and 92.3% feel the burden caused by financial problems related to hemophilia. The perception of the patients by caregivers was negative in the groups of low educational degree and unstable employment status (P = .037 and P = .017, respectively). The employment status and job changes influence the caregiver burden because of hemophilia (P = .034 and P = .001, respectively). The groups of those who spent greater than 5 hours for transportation to the hemophilia treatment center (HTC) had a higher burden (P = .001). Multiple linear regression analysis analyzed variables affecting HEMOCAB, frequency, and burden total scores. The model created with the burden total score was statistically significant (P = .047). Conclusion: The main factors affecting caregiver burden were educational status, working conditions, and economic difficulties, as well as the length of infusion times and transfer to HTCs. There is a need to develop socioeconomic policies related to these problems. [ABSTRACT FROM AUTHOR]

Background: In patients with hemophilia (PwH), bleeding often occurs in joints and muscles, and early detection of hemorrhage is important to prevent the onset and progression of mobility impairment. Complex-Image analysis such as ultrasonography, computed tomography, and magnetic resonance imaging are used to detect bleeding. On the other hand, no simple and rapid method to detect the active bleeding has been reported. Local inflammatory responses occur when blood leaks from damaged vessels, and the temperature at the site of active bleeding could be expected to increase in these circumstances, leading to an increase in surrounding skin temperature. Therefore, the purpose of this study was to investigate whether the measurement of skin temperature using infrared thermography (IRT) can be used as a diagnostic aid to detect active bleeding. Methods: Fifteen PwH (from 6 to 82 years old) complaining of discomfort such as pain were examined. Thermal images were obtained simultaneously at the affected sides and comparable unaffected sides. The average skin temperature of the affected side and of the unaffected side were measured. The temperature differences were calculated by subtracting the average skin temperature at the unaffected side from the affected side. Results: In eleven cases with active bleeding, the skin temperature at the affected side was more than 0.3 °C higher (0.3 °C to 1.4 °C) compared to the unaffected side. In two cases without active bleeding, there were no significant differences in skin temperature between the affected and unaffected sides. In two cases with previous rib or thumb bone fracture, the skin temperature at the affected side was 0.3 °C or 0.4 °C lower than that of the unaffected side, respectively. In two cases with active bleeding in which longitudinal evaluation was conducted, the difference in skin temperature decreased after hemostatic treatment. Conclusion: The analysis of skin temperature deference using IRT was a useful supportive tool to readily assess musculoskeletal abnormalities and bleeding in PwH as well as to determine the success of the hemostatic treatment. [ABSTRACT FROM AUTHOR]

An aberrant right subclavian artery (ARSA) is a rare developmental anomaly wherein the right subclavian artery arises from the descending aorta as a fourth branch of the aortic arch. We present the case of ARSA in an 81-year-old woman who was injured in a motorcycle accident. The patient had a history of asymptomatic cerebral infarction, type 2 diabetes mellitus, and rheumatoid arthritis. She was diagnosed with spleen and liver injury, left renal injury, along with fractures in the rib, pelvic, vertebrae, and right tibia. On the 3rd hospitalization day, activated partial thromboplastin time (APTT) prolongation was observed, followed by sudden massive hematemesis and shock on the 39th day. We indicate sudden hematemesis and ARSA bleeding as the cause. We performed compression with a Sengstaken–Blakemore tube and coil embolization for hemostasis. Our findings show that the bleeding was mainly caused by nasogastric tube compression, prolonged APTT, and acquired hemophilia A. [ABSTRACT FROM AUTHOR]

Background: Haemophilia A is a bleeding disorder caused by inadequate clotting factor VIII (FVIII). There are two main modes of treatment approach in severe haemophilia A patients either with on-demand or prophylaxis therapy with clotting factor FVIII concentrates. In this study, a comparison was made between the bleeding incidence rate of the on-demand and prophylaxis group in severe haemophilia A patients at Ampang Hospital, Malaysia. Methods: A retrospective study involving patients with severe haemophilia was conducted. The patient's self-reported bleeding frequency was retrieved from the patient's treatment folder from January to December 2019. Results: Fourteen patients received on-demand therapy, while the other 24 patients received prophylaxis treatment. The total number of joint bleeds in the prophylaxis group was significantly lower compared to the on-demand group (2.79 bleeds versus 21.36 bleeds [P < 0.001]). Furthermore, the total annual usage of FVIII was higher in the prophylaxis group compared to the on-demand group (1,506 IU/kg/year [± 905.98] versus 365.26 IU/kg/year [± 223.90], P = 0.001). Conclusion: Prophylaxis FVIII therapy is an effective treatment in reducing the frequency of bleeding joints. However, this treatment approach is associated with high cost due to the high consumption of FVIII. [ABSTRACT FROM AUTHOR]

Background: Iliopsoas bleed is a serious complication in people with hemophilia (PWH), with significant morbidity. Studies examining the profile, incidence, and outcomes in psoas bleeds are scarce and will shed more light and increase awareness about its management. Material and Methods: Data of 453 PWH with confirmed iliopsoas bleed treated at Bangalore Medical College were retrospectively analyzed. Results: Eighty-five (18.8%) PWH presented with total of 154 psoas bleeds. Their mean age was 21.96 years. Common symptoms were thigh/ hip/groin pain (100.0%), hip flexion spasm (41.2%), numbness/tingling in quadriceps muscle (5.9%), abdominal tenderness (3.5%), hematuria, and anemia requiring blood transfusion in 2.4% each. Long-term complications were quadriceps atrophy (9.4%), permanent abnormal posture (10.6%), transient paresthesia in the distribution of femoral nerve (3.5%), and pseudo tumor in pelvis (1.2%). The overall average duration of therapy with clotting factor concentrate was 1.7 days with a mean duration of therapy of 1.4 days in patients without inhibitors and 2.8 days in patients with inhibitors (p=0.010). The overall mean duration of hospitalization was 7.2 days with 5.3 days in PWH without inhibitors and 8.3 days in PWH with inhibitors (p=0.342). Conclusion: Pain in hip joint/groin/hip flexion spasm suggests the possibility of an iliopsoas hematoma and early factor replacement therapy should be started to prevent complications. Early treatment at first sign of discomfort reduces the duration of treatment, and prevents severe complication and invasive interventions. Patients with inhibitors were overrepresented in the cohort who needed longer duration of factor replacement therapy. [ABSTRACT FROM AUTHOR]

Ultrasound (US) has been proven to be reliable in the assessment of early haemophilic arthropathy in the adult haemophilic population, however few studies so far focused on the reliability of US specifically in the paediatric haemophilic population. We were interested if the changing appearance of the growing bone hinders the ultrasonographic evaluation of the pathologic processes caused by haemophilic arthropathy. The aim of the study was to assess the reliability of US for evaluation of haemophilic arthropathy in children in comparison to magnetic resonance imaging (MRI). The study included all children aged 6 years or more with severe haemophilia in the country (n = 10). We assessed their elbows, knees, and ankles bilaterally by US and compared the results to the MRI as the reference standard. Pearson correlation coefficient (r) was used to analyse correlation. The correlation with MRI for the US for the total score was excellent for all joints (r = 0.849 for the elbows, r = 1 for knees, r = 0.842 for ankles). The correlation of scores for specific joint components showed fair, moderate, or excellent correlation for all joint components in all joints. The correlation was the lowest for the evaluation of cartilage and bone in the ankles (r = 0.546 and r = 0.478) and bone in the elbows (r = 0.499). Our study proved that US using the HEAD-US method performed by paediatric radiologists is a reliable tool for detection and quantification of haemophilic arthropathy in children in comparison to MRI. [ABSTRACT FROM AUTHOR]

Persons with hemophilia experience joint bleeding that can lead to debilitating arthropathy, most commonly seen in ankles, knees, and elbows. Arthropathy can hinder participation in daily and athletic activities. We explored how hemophilic arthropathy impacts movement patterns in walking and bilateral squatting tasks in persons with hemophilia compared to healthy controls. Persons with hemophilia and healthy controls completed walking and squatting tasks while kinematic and kinetic motion capture data were collected. The Hemophilia Joint Health Score exam was performed to measure hemophiliac arthropathy. OpenSim was used to model muscle and joint reaction forces and calculate moments and angles. Peak values were compared using Cohen's d to estimate effect sizes of hemophilia on movement parameters. Nine persons with hemophilia and eight age-matched controls were analyzed. Temporal-spatial metrics were similar between hemophilia and control groups in both tasks. In walking, persons with hemophilia had higher peak ankle dorsiflexion angles, vertical ground reaction force weight acceptance peaks, and hip extension and flexion moments compared to controls. In squatting, persons with hemophilia had lower knee extension moments, ankle joint reaction force, and knee extensor forces, but had higher hip extension moments. Temporal-spatial metric similarity between hemophilia and controls suggests that kinetic and kinematic analyses are needed to identify movement pattern differences. These data identify potential compensatory strategies at the hip that may be used by persons with hemophilia to mitigate impact on the knee and ankle. Future work will confirm these data in a larger sample size and be used to develop physical therapy strategies. • Persons with hemophilia have musculoskeletal bleeds that impact movement. • OpenSim was used to model muscle & joint forces in persons with hemophilia and controls. • Potentially compensatory higher hip loading was seen in walk and squat in hemophilia. • Reduced ankle joint reaction force was seen in squatting but not walking in hemophilia. [ABSTRACT FROM AUTHOR]

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To evaluate the effectiveness of manual therapy in reducing the frequency of clinical hemarthrosis, increasing range of motion and improving the perception of disability in the upper limbs in patients with hemophilic elbow arthropathy. Sixty-nine patients were randomized into experimental (N = 35) and control group (N = 34). The outcome measures were: frequency of clinical hemarthrosis, the elbow range of motion and the perception of disability in the upper limbs (DASH questionnaire). The intervention included one 50 min weekly session, for three weeks, of upper limb fascial therapy according to our treatment protocol. There were differences (p < 0.001) in the repeated measures analysis for frequency of elbow clinical hemarthrosis (F = 20.64) and range of motion in flexion (F = 17.37) and extension (F = 21.71). No differences were found in the overall perceived disability (F = 0.91; p =.37). We found group interaction with the (p < 0.001) in the frequency of elbow clinical hemarthrosis, range of motion and overall perceived disability. Manual therapy is safe in patients with hemophilia and elbow arthropathy. Fascial therapy reduces the frequency of hemarthrosis, increases the range of motion and improves the perceived disability in the upper limbs. Trial registration number: id NCT03009591 Impairments in the range of motion, pain and disability may occur in patients with hemophilic elbow arthropathy since early age. There is a need to validate safe and effectiveness protocols of rehabilitation to treat these patients. Prophylactic replacement is the most effective treatment for the prevention of hemarthrosis. Physiotherapists need to be trained in the specific management of patients with hemophilia. Manual therapy can be a safe and effective tool in the treatment of hemophilic arthropathy. [ABSTRACT FROM AUTHOR]

Introduction. Intramuscular hemorrhages are the second most common type of bleeding in patients with haemophilia. In haemophilic patients, muscle bleeding causes pain and postural defects and requires a long healing time. Aim. The purpose of this study is to evaluate the effectiveness of kinesiotaping, in combination with functional rehabilitation and CO2 laser therapy, in the healing process of MH in patients with haemophilia. Methods. We recruited 39 haemophilia patients who presented with a muscle hematoma. The patients were divided into 2 groups: treatment group treated with kinesiotaping, functional re-education and CO2 laser therapy, and a control group treated with functional re-education and CO2 laser therapy. The evolution of the hematoma was studied ultrasonographically and some evaluation scales (NRS, FISH) were administered. Results. The treatment group, compared to the control group, showed significant improvements in terms of: hematoma diameter (2.36 ± 3.32 vs 6.47 ± 3.37; p < 0.05), hematoma thickness (0.08 ± 0.12 vs 0.28 ± 0.14; p = 0.08), pain (NRS: 2 ± 1.57 vs 3.53 ± 1.37; p < 0.05) and number of days of replacement therapy (n days: 1.3 ± 0.48 vs 3.2 ± 0.98; p < 0.05). These results were shown to be superior in patients on prophylaxis. Conclusions. Kinesiotaping, associated with therapeutic exercise and physical therapy, can be a valuable aid in reducing the healing times of muscle hematomas in haemophilic patients, especially if already under prophylaxis. [ABSTRACT FROM AUTHOR]

Background: Hemophilia is a recessive hemorrhagic disease relevant to X chromosome. In mild hemophilia cases, spontaneous bleeding is rare and the blood clotting function is normal, but severe bleeding may occur after trauma or surgery. Therefore, missed diagnosis of hemophilia before operation may contribute to bleeding after hemorrhoid operation.Case Presentation: A 21-year-old male was hospitalized in the anorectal department because of repeated bleeding after hemorrhoid surgery. Despite several suture hemostasis procedures, the patient still suffered from recurrent bleeding. He had no family history of hemophilia or bleeding tendency, and had not been diagnosed with hemophilia before this admission. The diagnosis of mild hemophilia B was made after further examination of coagulation indexes. By using frozen plasma and coagulation factor complex to supplement coagulation factors, the patient's bleeding was stopped and he was discharged after 23 days in hospital. During the follow-up, lower-than-normal coagulation factors were still found in him, but no bleeding occurred again.Conclusions: The undiagnosed patient with mild hemophilia B has an increased risk of bleeding after hemorrhoid surgery because of the consumption of coagulation factors. This case report aims to address the importance of hemophilia screening before operation and reduce the risk of postoperative bleeding. For patients with recurrent bleeding after hemorrhoid surgery, hemophilia should be further excluded. Wound bleeding may recur in hemophilia patients after suture hemostasis. Therefore, prompt supplementation of coagulation factors is needed to help stop bleeding once the diagnosis of hemophilia is made. [ABSTRACT FROM AUTHOR]

Purpose: To assess the caries experience and periodontal health status among children with haemophilia in New Delhi.Materials and Methods: This case control study was conducted in New Delhi over a 14-month period. Data were collected from 110 children, of which 55 children had haemophilia and 55 were healthy. Caries was assessed in terms of decayed, missing and filled teeth, according to WHO criteria, while periodontal health status was assessed regarding plaque present, and recorded by utilising the Silness and Löe plaque index.Results: In children with haemophilia, overall caries experience was low in the primary dentition as compared to healthy children, with mean dmft of 2.02 ± 2.4 and mean dmfs of 4.71 ± 7.3, as well as in the permanent dentition with a mean DMFT of 0.47 ± 0.87 and mean DMFS of 0.56 ± 1.167. Thus, caries experience was lower in the permanent than in the primary dentition. There was no significant difference between the two groups regarding the periodontal health. The overall dental health in children with haemophilia was better than in healthy children, as there was a significant influence of parental toothbrushing habits on children with haemophilia.Conclusion: Caries experience was significantly lower in children with haemophilia as compared to healthy children. The periodontal health status of children with haemophilia was found to be comparable to that of the healthy children. [ABSTRACT FROM AUTHOR]

Background: Valoctocogene roxaparvovec (AAV5-hFVIII-SQ) is an adeno-associated virus 5 (AAV5)-based gene-therapy vector containing a coagulation factor VIII complementary DNA driven by a liver-selective promoter. The efficacy and safety of the therapy were previously evaluated in men with severe hemophilia A in a phase 1-2 dose-escalation study.Methods: We conducted an open-label, single-group, multicenter, phase 3 study to evaluate the efficacy and safety of valoctocogene roxaparvovec in men with severe hemophilia A, defined as a factor VIII level of 1 IU per deciliter or lower. Participants who were at least 18 years of age and did not have preexisting anti-AAV5 antibodies or a history of development of factor VIII inhibitors and who had been receiving prophylaxis with factor VIII concentrate received a single infusion of 6×1013 vector genomes of valoctocogene roxaparvovec per kilogram of body weight. The primary end point was the change from baseline in factor VIII activity (measured with a chromogenic substrate assay) during weeks 49 through 52 after infusion. Secondary end points included the change in annualized factor VIII concentrate use and bleeding rates. Safety was assessed as adverse events and laboratory test results.Results: Overall, 134 participants received an infusion and completed more than 51 weeks of follow-up. Among the 132 human immunodeficiency virus-negative participants, the mean factor VIII activity level at weeks 49 through 52 had increased by 41.9 IU per deciliter (95% confidence interval [CI], 34.1 to 49.7; P<0.001; median change, 22.9 IU per deciliter; interquartile range, 10.9 to 61.3). Among the 112 participants enrolled from a prospective noninterventional study, the mean annualized rates of factor VIII concentrate use and treated bleeding after week 4 had decreased after infusion by 98.6% and 83.8%, respectively (P<0.001 for both comparisons). All the participants had at least one adverse event; 22 of 134 (16.4%) reported serious adverse events. Elevations in alanine aminotransferase levels occurred in 115 of 134 participants (85.8%) and were managed with immune suppressants. The other most common adverse events were headache (38.1%), nausea (37.3%), and elevations in aspartate aminotransferase levels (35.1%). No development of factor VIII inhibitors or thrombosis occurred in any of the participants.Conclusions: In patients with severe hemophilia A, valoctocogene roxaparvovec treatment provided endogenous factor VIII production and significantly reduced bleeding and factor VIII concentrate use relative to factor VIII prophylaxis. (Funded by BioMarin Pharmaceutical; GENEr8-1 ClinicalTrials.gov number, NCT03370913.). [ABSTRACT FROM AUTHOR]

Background: Patients with severe haemophilia suffer from bleeding-related joint changes in which the ankle joint is most frequently affected. In the resulting gait changes, the forefoot is involved by reducing the foot pressure. However, it is unclear which changes in foot pressure are present in the individual's foot zones.Research Question: The aim of the study was to determine whether compensation mechanisms are present in the foot zones regarding the peak pressure under dynamic conditions and to identify possible underlying mechanisms for gait changes.Methods: In a controlled cross-sectional study, a pedobarography was performed during gait with a standardized speed (3 km/h) in patients with haemophilia (PwH;n = 40) and healthy controls (Con;n = 40). Pressure pain thresholds (PPT) were detected, and Haemophilia Joint Health Score (HJHS) was performed to determine the current joint status.Results: PwH showed a decreased peak pressure in metatarsals II-IV and heel compared to Con. Patients with major-affected ankle joints (determined with the HJHS) showed a decreased single-step length, stride-length and stride-time. Accordingly, the cadence was increased by 10 ± 11 steps/min in PwH compared to Con. Furthermore, PwH showed decreased ankle range of motion (ROM) in HJHS and an altered pain perception due to reduced PPT.Significance: PwH showed a changed gait pattern in peak pressure compared to Con. A restricted rolling behavior, which might be caused by movement restrictions and pain sensation, leads to reduced pressure in the center forefoot, resulting in a shorter stride-length. Future therapies should focus on maintaining joint mobility for better rolling behavior and improving ankle joints' stability to achieve a balanced load between the midfoot, heel, and forefoot. The use of insoles adapted to our data, based on group differences between PwH and Con, could be supportive in this case. [ABSTRACT FROM AUTHOR]

Objectives Pain is a known complication in persons with hemophilia (PWH) as a result of muscle and joint bleeding. Little is known regarding national Hemophilia Treatment Center (HTC) practice patterns related to pain management. The aim of this study was to: 1) Describe pain management practice patterns of HTC providers, 2) Identify gaps and areas of alignment with the CDC pain guidelines, and 3) Address educational opportunities for pain management. This survey is the first extensive description of multidisciplinary practice patterns of pain management for PWH. Methods This descriptive study involved physicians, nurse practitioners, nurses, physical therapists, and social workers from federally funded Hemophilia Treatment Centers (HTC) eligible to complete an online survey exploring pain management practice patterns within the CDC pain guidelines. Results Results of this survey shed light on areas of strength and cohesiveness between HTC providers, including the following: dedication to effective pain management, utilization of non-pharmacological pain options, trial of non-opioid medications first before opioids, maintaining follow-up with patients after opioid prescription initiation, recognizing and utilizing clinically important findings before prescribing opioids, and counseling their patients regarding potential risk factors. Conclusions There remain opportunities to incorporate into clinical practice consistent use of tools such as formal screening questionnaires, opioid use agreements, written measurable goals, ongoing prescription monitoring, and written plans for discontinuation of opioid therapy. These results provide opportunities for improvement in education of HTC team members thus optimizing pain management in persons with bleeding disorders. [ABSTRACT FROM AUTHOR]

Background: Hemophilic arthropathy is characterized by loss of function and chronic pain. Fascial therapy mobilizes the connective tissue and is thus involved in the condition of the injured fascial complex and the surrounding tissues. Objective: To evaluate the safety of a physiotherapy program using fascial therapy in patients with hemophilic elbow arthropathy. Methods: Fourteen adult patients with hemophilia were randomly assigned to a control group and an intervention group. The intervention consisted of three 45-min sessions of fascial therapy over a 3-week period. Assessment was carried out at baseline, after treatment, and at follow-up. The study variables were bleeding frequency using a self-registration of bleeding; joint pain using the visual analog scale; range of motion with a universal goniometer; and joint status assessed with Hemophilia Joint Health Score. Results: None of the patients developed joint bleeding during the experimental period. Joint pain in the experimental group decreased by 1.43 out of 2.43 (95% CI 0.52 to 2.33) and 2.14 out of 2.57 (95% CI 0.18 to 4.10) in right and left elbow, respectively, more than the control group by 3 weeks. Flexion increased by 3.57 degrees out of 129.14 (95% CI 5.48 to 1.65) in right elbow and joint condition improved by 1.14 points out of 6.0 (95% CI 0.01 to 2.26) more than the control group by 3 weeks. Conclusion: Fascial therapy does not appear to produce elbow hemarthrosis in patients with hemophilia. This treatment can improve joint pain, range of motion, and elbow status in patients with hemophilia. [ABSTRACT FROM AUTHOR]

Since the introduction of episodic and prophylactic treatments with safer factor concentrates, the life expectancy of people with haemophilia (PwH) has improved considerably. Ageing-related diseases such as cardiovascular disease (CVD) have also become more prevalent in PwH. This cross-sectional study aimed to evaluate CVD risk factors and estimate 10-year risk for CVD events among PwH. Male patients ≥ 30 years were interviewed and examined. Blood tests were performed at the local laboratory. Eighty-two patients were included, of whom 83% had haemophilia A and half had severe disease. Median age at study entry was 43.0 years (interquartile range [IQR], 36.0-51.3). Prevalence of obesity, systemic arterial hypertension (SAH) and diabetes mellitus were 16%, 60% and 16%, respectively. Hypertriglyceridaemia, hypercholesterolaemia and low HDL blood levels were present in 18%, 41% and 30% of patients, respectively. Metabolic syndrome was found in 37%. The Framingham Risk Score showed that 39% of PwH had a high risk of developing cardiovascular events in the following 10 years. We conclude that, in this cohort, PwH have a higher prevalence of SAH when compared with Brazilian men without haemophilia and about two-fifths have a high risk of developing a CVD event in the following 10 years. [ABSTRACT FROM AUTHOR]

Background: Recurrent hemarthrosis that begin in childhood lead to progressive joint deterioration. Patients with haemophilia have chronic pain, functional disability and a reduced perception of health-related quality of life.Purpose: To analyse the perceived quality of life of adult patients with haemophilic arthropathy and its relationship with pain, joint condition, kinesiophobia and catastrophism.Methods: Eighty-three adult patients with haemophilia were included in this multicentre, cross-sectional, descriptive study. Perceived quality of life (36-Item Short Form Health Survey), perceived usual and maximum pain (visual analogue scale), joint condition (Haemophilia Joint Health Score), kinesiophobia (Tampa Scale of Kinesiophobia) and catastrophism (Pain Catastrophizing Scale) were assessed. Sociodemographic, clinical and therapeutic variables and drug consumption for pain control were collected. Descriptive statistics used means and standard deviations. The correlation of quality of life with the dependent variables was calculated with the Pearson correlation test. The differences in quality of life as a function of the binomial variables were calculated with Student's t-test for independent samples.Results: Physical component of quality of life perceived by patients with hemophilia is lower than Spanish population (30.51 VS 48.85). Regarding the mental component, patients with hemophilia showed higher values (56.07 VS 49.97). Catastrophism correlated (p < .05) with all items of quality of life questionnaire. Kinesiophobia correlated (p < .05) with all items of quality of life except to role-emotional (r = -.18; p > .05). Habitual and maximal joint pain correlated with all items except to role-emotional (r = - .19 and r = - .09, respectively) and mental component score (r = - .16 and r = - .07, respectively). Catastrophism and weekly drug intake were inversely correlated with quality of life. Age was positively correlated with perceived quality of life. There were differences in quality of life as a function of the severity of haemophilia and the intake of drugs for pain control.Conclusions: The perceived quality of life of adult patients with haemophilia is worse than that of the Spanish population. Pain, kinesiophobia, catastrophism, haemophilia severity and the intake of pain-control medication influence the quality of life of these patients. [ABSTRACT FROM AUTHOR]

Arthropathy is a serious and common problem in patients with hemophilia impairing the patient's quality of life seriously. The most commonly affected joints in hemophilic arthropathy are knees, ankles and elbows. Even a single bleeding could cause devastating effects to synovium, cartilage and also subchondral bones. Ultrasound and magnetic resonance imaging have been advocated for the studying of cartilage damage. Prophylaxis has been demonstrated as a standard choice of management to prevent hemophilic arthropathy development. Primary prophylaxis starting at early years of age is very important to prevent hemorrhages but secondary prophylaxis in adolescents has also significant success rates. As the duration of exposure to the blood increases in the joint cavity, degeneration of the cartilage matrix and resultant cartilage loss also increase, so the aspiration of the hematoma from joint plays an important role in prevention of the disease progression. Synovectomy may be required in cases where prophylaxis and aspiration does not prevent the recurrent hemorrhages. The purpose of synovectomy either with medical or surgical methods is to remove the problematic synovium to prevent the progression of hemophilic arthropathy. Medical synovectomy (synoviorthesis) has two basic types; radiosynovectomy and chemical synovectomy and the former one is appearing to be more effective with an about 85% success rates. If all of these measures fail to prevent the progressive cartilage damage, open or arthroscopic synovectomy, arthrodesis of the affected joint or even arthroplasty could be necessary. Here we tried to summarize the pathological mechanism, diagnosis and management of hemophilic arthropathy in children. [ABSTRACT FROM AUTHOR]

Patients with hemophilia are at high risk of bleeding following oral surgery. As an X-linked recessive chromosomal bleeding disorder it is very rare in female patients. This is the first described case of management of third molar removal in a female patient suffering from severe hemophilia B. Excellent hemostasis was achieved by following a protocol using defined pre- and postoperative doses of factor IX and local hemostatic measures of collagen fleece, fibrin glue, primary suture, and tranexamic acid solution. Following defined protocols is essential in the management of oral surgery in patients with hemophilia and helps to prevent postoperative hemorrhages. [ABSTRACT FROM AUTHOR]

Hemophilia A is a hereditary hemorrhagic disorder associated with bleeding episodes and characterized by deficiency or dysfunction of coagulation protein factor VIII. Cancer incidence was found to increase in hemophilic patients. A case of a 6-year old boy with papillary thyroid cancer and hemophilia who underwent a successful total thyroidectomy and bilateral modified radical lymph node dissection with appropriate peri-operative management consisting of Factor VIII replacement is presented. [ABSTRACT FROM AUTHOR]

Introduction: The surgical, arthroscopic synovectomy and radiosynovectomy (radiosynoviorthesis, RSO) all have great practical importance, since they can eliminate the posttraumatic joint bleedings and prevent the further joint destructions in hemophilic patients. The aim of this study was to examine the role of RSO in the prevention of joint bleedings in hemophilic patients.Methods: 54 out of 684 RSO patients were hemophiliacs. Mean age of the patients was 32 years (range 14-51), therefore this is a relatively young patients' cohort. Radiosynovectomy was performed in 37 patients with hemophilia A and in 17 patients suffering from hemophilia B. Since hemophilia is a sex-linked (x-linked) recessive disorder, all of the patients were male. There was no acquired hemophiliac among the treated patients.Results: The RSO resulted in a 95% decline in bleedings per year and eliminated the incidence of further bleedings in 55% of the treated joints.Conclusion: Our findings support the view that radiosynoviorthesis can be considered as the first choice treatment for posttraumatic joint bleedings of hemophilic patients. [ABSTRACT FROM AUTHOR]

Introduction: Despite the well-documented benefits of prophylaxis, treatment burden is still a barrier to adherence in patients with haemophilia. An extended half-life fusion protein linking recombinant FIX (rFIX) with human albumin (rIX-FP) has been developed for the treatment of patients with haemophilia B and is indicated for dosing up to every 14 days. This analysis evaluated real-world outcomes in patients switching to rIX-FP from the previous FIX product in Italy, Belgium and the UK.Methods: Anonymised chart data were collected from the pre-existing medical records of patients with haemophilia B between May and September 2018. Patients were included in the analysis if they had been treated with rIX-FP for ≥ 8 weeks. Data were compared between rIX-FP and the patient's prior FIX product.Results: Twenty-three HTCs from Italy (n = 13), Belgium (n = 3) and the UK (n = 7) provided data for 84 male patients, 92.8% of which had severe haemophilia B. The majority of patients were previously on prophylactic regimens with their prior FIX product (Italy, 44/49; Belgium, 7/10; UK, 22/25). The switch to prophylaxis with rIX-FP led to reductions in mean annualised bleeding rate of 94.3% in Italy, 93.9% in Belgium and 67.7% in the UK compared with prior FIX prophylaxis. Overall, 41% of patients experienced zero spontaneous bleeds prior to switching, compared with 88% following the switch to rIX-FP. The majority of patients had a reduction in dosing frequency following the switch, with 98.6% of patients dosing once weekly or less frequently compared with 9.6% of patients dosing at this frequency with their prior FIX. Mean weekly FIX consumption was reduced compared with prior FIX prophylaxis.Conclusion: This retrospective review of real-world evidence demonstrated that switching to rIX-FP from prior FIX was associated with improved haemostatic efficacy and reduced factor consumption in patients with haemophilia B from Italy, Belgium and the UK. [ABSTRACT FROM AUTHOR]

Purpose: Only a few studies in the literature have reported on the outcome of ankle arthrodesis in haemophilia patients, and the optimal surgery technique for end-stage haemophilic ankle arthropathy remains controversial. The purpose of this study was to evaluate the results of ankle arthrodesis using the Ilizarov method in treating end-stage haemophilic ankle arthropathy.Methods: Fourteen haemophilia patients with end-stage ankle arthropathy who underwent ankle arthrodesis using the Ilizarov method from December 2013 to May 2018 were enrolled in this study. The hospital day, fusion rate, complications, and functional outcomes were recorded and analyzed. Functional outcomes were evaluated according to the pre-operative and final follow-up of the American Orthopedic Foot and Ankle Society (AOFAS) ankle-hind foot score, visual analog scale (VAS), and Medical Outcomes Short Form 12-item questionnaire score (SF-12) .Results: All patients achieved bony fusion as confirmed by post-operative radiographs. The average time to fusion was 12.9 weeks (range, 10-17 weeks). Superficial pin track infection was observed in two patients, and subtalar arthritis was found in one patient. The mean AOFAS ankle-hind foot score, VAS score, physical component summary (PCS), and mental component summary (MCS) at final follow-up were significantly improved compared with the pre-operative data. All patients were satisfied with the surgery.Conclusions: Ankle arthrodesis using the Ilizarov method is a minimally invasive, effective, and safe surgical method and can be a viable option for hemophilia patients with end-stage ankle arthropathy. [ABSTRACT FROM AUTHOR]

A case study of a 15-month-old male presents to a community hospital with a 4-day history of lethargy, vomiting, and decreased appetite is presented. Topics include examination reveals normal cardiac, respiratory, and abdominal examinations, no focal neurologic deficits and no skin rashes or bruises; and oral rehydration and paediatrics is consulted for admission.

Introduction. Medical improvements have allowed hemophilia patients to anticipate an increased quality of life and life expectancy similar to that of the general population. Analysis of the potential disease symptoms of hemophilia patients based on a survey of Sasang Constitutional Medicine (SCM) is important for optimal preventive care and adjunctive therapy to avoid life-threating complications. Aim. To predict potential disease symptoms from the viewpoint of SCM as a preventive care strategy for hemophilia patients. Methods. Sixty-one hemophilia patients responded to a survey on Sasang constitutional classification, hemophilia disease pattern, and original symptoms. Results. In terms of SCM type, the 61 of hemophilia patients included 37 Tae-Eum (60.7%), 18 So-Yang (29.5%), and 6 So-Eum (12.5%). Hemophilia was found to be higher in Tae-Eum type and lower in So-Yang and So-Eum types, while considering the distributional rate of Korean Sasang types. Most of the patients with Tae-Eum type had Joyeol or Ganyeol. Furthermore, the incidences of diabetes and high blood pressure were greater in Tae-Eum type than in those of other types. Conclusion. In order to increase the quality of life and overall life expectancy, hemophilia patients with Tae-Eum type should be treated through management according to SCM along with medicine against hemophilia as long-term preventive care. Diabetes and high blood pressure should be regularly monitored in patients with Tae-Eum type. [ABSTRACT FROM AUTHOR]

Background: Adeno-associated virus (AAV)-mediated gene therapy is under investigation as a therapeutic option for persons with hemophilia A. Efficacy and safety data include 3 years of follow-up after a single administration of AAV5-hFVIII-SQ.Methods: We report durable efficacy, long-term safety, and clinical and biologic results in 15 adults with severe hemophilia A (factor VIII level, ≤1 IU per deciliter) who had received a single infusion of AAV5-hFVIII-SQ at various dose levels. We evaluated the factor VIII level, annualized rate of bleeding events, use of factor VIII, safety, expression kinetics, and biologic markers of AAV transduction for up to 3 years.Results: Three years after infusion, two participants (one who had received 6×1012 vector genomes [vg] per kilogram of body weight and one who had received 2×1013 vg per kilogram) had factor VIII expression of less than 1 IU per deciliter, as assessed on chromogenic assay. Seven participants (who had received 6×1013 vg per kilogram) had a median factor VIII expression of 20 IU per deciliter; the median number of annualized treated bleeding events was 0, and the median use of exogenous factor VIII was reduced from 138.5 infusions to 0 infusions per year. Bleeding in all target joints (major joints with ≥3 bleeding events within 6 months) in this cohort resolved (≤2 bleeding events within 12 months). Two years after infusion, six participants (who had received 4×1013 vg per kilogram) had a median factor VIII expression of 13 IU per deciliter; the median annualized rate of bleeding events was 0, and the median use of factor VIII was reduced from 155.5 infusions to 0.5 infusions per year. Bleeding in target joints resolved in five of six participants. The factor VIII pharmacodynamic profiles reflected cellular turnover in the blood and molecular events leading to episomal DNA stabilization for persistent expression, findings that are consistent with previous observations in two model systems. Transgene-derived human factor VIII (hFVIII) protein activity mirrored native hFVIII in hemostatic ability. No inhibitor development, thromboses, deaths, or persistent changes in liver-function tests were observed.Conclusions: Gene therapy with AAV5-hFVIII-SQ vector in participants with hemophilia A resulted in sustained, clinically relevant benefit, as measured by a substantial reduction in annualized rates of bleeding events and complete cessation of prophylactic factor VIII use in all participants who had received 4×1013 vg per kilogram or 6×1013 vg per kilogram of the gene therapy. (Funded by BioMarin Pharmaceutical; ClinicalTrials.gov number, NCT02576795; EudraCT number, 2014-003880-38.). [ABSTRACT FROM AUTHOR]

Background: The appearance of inhibitory antibodies against antihemophilic factors is one of the most serious complications related to hemophilia. Objective: The objective of this study was to identify variables and factors related to the development of inhibitory antibodies in a group of patients undergoing antihemophilic therapy in Colombia. Methods: A case-control study in patients with hemophilia treated in Specialized Healthcare Provider Institutions (IPS-E) in 21 cities of Colombia of any age and with a diagnosis of inhibitory antibodies against factor VIII or IX during 2016. Four controls per case paired by age and type of hemophilia were used. Sociodemographic, clinical, and pharmacological variables were identified and analyzed. Results: Seventeen patients with inhibitory antibodies and 68 controls with hemophilia were identified. The mean age was 28.3 ± 17.8 years. A total of 94.1% had hemophilia A, and 88.2% of the cases and 50.0% of the controls had severe hemophilia; 47.1% of the cases and 54.4% of the controls were receiving prophylaxis with coagulation factors. Multivariate analysis showed that having severe hemophilia (OR:17.0, 95%CI:1.32–219.60) and lack of knowledge of the coagulation factor with which the patient was treated before entering the care program in the IPS-E (OR:8.9, 95%CI:1.82–43.75) were significantly associated with a higher probability of developing inhibitory antibodies. Conclusion and relevance: Coagulation factors associated with the development of inhibitory antibodies were severe hemophilia and lack of knowledge of the type of factor used prior to entering the follow-up cohort. [ABSTRACT FROM AUTHOR]

Background: Repeated haemarthroses affect approximately 90% of patients with severe haemophilia and lead to progressive arthropathy, which is the main cause of morbidity in these patients. Diagnostic imaging can detect even subclinical arthropathy changes and may impact prophylactic treatment. Magnetic resonance imagining (MRI) is generally the gold standard tool for precise evaluation of joints, but it is not easily feasible in regular follow-up of patients with haemophilia. The development of the standardized ultrasound (US) protocol for detection of early changes in haemophilic arthropathy (HEAD-US) opened new perspectives in the use of US in management of these patients. The HEAD-US protocol enables quick evaluation of the six mostly affected joints in a single study. The aim of this prospective study was to determine the diagnostic accuracy of the HEAD-US protocol for the detection and quantification of haemophilic arthropathy in comparison to the MRI. Patients and methods: The study included 30 patients with severe haemophilia. We evaluated their elbows, ankles and knees (overall 168 joints) by US using the HEAD-US protocol and compared the results with the MRI using the International Prophylaxis Study Group (IPSG) MRI score. Results: The results showed that the overall HEAD-US score correlated very highly with the overall IPSG MRI score (r = 0.92). Correlation was very high for the evaluation of the elbows and knees (r ≈ 0.95), and slightly lower for the ankles (r ≈ 0.85). Conclusions: HEAD-US protocol proved to be a quick, reliable and accurate method for the detection and quantification of haemophilic arthropathy. [ABSTRACT FROM AUTHOR]

Objectives Detailed knowledge of the sequential cell and tissue responses following haemarthrosis is important for a deep understanding of the pathological process initiated upon extensive bleeding into the joint causing haemophilic arthropathy (HA). The underlying pathobiology driving haemarthrosis towards HA has been difficult to establish in detail, although animal models have shed light on some processes. Previous studies have focused on a single or a few distant time points and often only characterizing one tissue type of the joint. The objective of this study was, therefore, to carefully map early onset of synovitis and HA following induced haemarthrosis. Methods One hundred and thirty haemophilia A rats were subjected to induced haemarthrosis or a sham procedure in full anaesthesia and euthanized from 30 min to 7 days after the procedure. Pathological changes of the joints were visualized using micro-computed tomography, histology and immunohistochemistry. Results Synovitis developed within 24 h and was dominated by myeloid cell infiltrations. Cartilage and bone pathology were evident as early as 48–96 h after haemarthrosis, and the pathology rapidly progressed with extensive periosteal bone formation and formation of subchondral cysts. Conclusion Fast, extensive and simultaneous cartilage and bone degeneration developed shortly after haemarthrosis, as shown by the detailed mapping of the early pathogenesis of HA. The almost immediate loss of cartilage and the pathological bone turnover suggest a direct influence of blood on these processes and are unlikely to be attributed simply to an indirect effect of inflammation. [ABSTRACT FROM AUTHOR]

Introduction: Numerous measuring instruments for the evaluation of hemophilic arthropathy have been developed. One of the most used systems is the Hemophilia Joint Health Score (HJHS) given its sensitivity to clinical changes appearing in the joints because of recurrent hemarthrosis. Objective: Assessing the interrater reliability, using the Spanish version of the HJHS (version 2.1) in children with hemophilia. Design: Reliability study to assess the interrater reliability of the Spanish version of HJHS. Methods: A sample of 36 children aged 7-13 years diagnosed with hemophilia A or B was used. Two physiotherapists performed physical assessments with the Spanish version of the HJHS. Descriptive statistics (range, mean, standard deviation) and the analysis of interrater reliability were calculated. Results: The interrater reliability was heterogeneous since the Kappa coefficient range (ĸ), although significant (p < 0.001), ranged 0.31-1.00 in the variables of HJHS (swelling, duration of swelling, muscle atrophy, crepitus on motion, flexion loss, extension loss, joint pain, strength, and global gait). In assessing the bias of observers with the Bland and Altman method, the observer 1 scored 0.41 (CI [−0.67, 1.49]) units above observer 2, and the difference between the two was significant (t(36) = 4.48), p < 0.001). Conclusions: The interrater reliability of the Spanish population version of the HJHS is high. This scale should be used generically in evaluating musculoskeletal pediatric patients with hemophilia. [ABSTRACT FROM AUTHOR]

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The article offers information on the public health challenges faced by the Hemophilia A, along with information on Hemophilia A as the common severe congenital bleeding disorder. It mentions that residual plasma level of factor (F) VIII level, patients with Hemophilia A have variable clinical manifestations, ranging from asymptomatic condition to life-threatening diathesis.

Background& Objectives: People with hemophilia constitute a significant proportion of the population and an oral health care professional faces a considerable challenge while treating them. This study aimed to assess the oral health and dentition status as well as fear of dental treatment in patients with hemophilia and compare it with age-matched healthy subjects.Patients& Methods: This single-center, case-control cross-sectional study was performed on 100 subjects with hemophilia and 100 age-matched healthy controls. Oral health and dentition status was recorded for all the subjects and scored using the simplified oral hygiene index (OHI-S), plaque index, and the dmft/DMFT index.Results: There were a total of 41 children and 59 adults in the hemophilia group and 36 children and 64 adults in the healthy group. When compared to healthy subjects it was observed that individuals with hemophilia had higher debris and calculus scores which was indicative of poor orodental status. There was no significant difference observed in the DMFT scores among the study groups.Interpretation& Conclusions: The oral hygiene of the hemophilics was poorer when compared to the healthy controls. The findings highlight the need for establishing interdisciplinary care for such individuals. [ABSTRACT FROM AUTHOR]

Background: The primary clinical manifestations of hemophilia are muscle and joint bleeding. Recurrent bleeding leads to a degenerative process known as hemophilic arthropathy. Fascial therapy is one of the most used physiotherapy techniques today to improve joint dysfunctions and chronic pain. Objective: To assess the safety and efficacy of fascial therapy treatment in patients with hemophilic arthropathy of ankle and knee. Design: Non-randomized, controlled clinical trial. Intervention: Sixteen patients with hemophilia were allocated to an experimental group or to a control group. The physiotherapy intervention was performed through three sessions (one per week), for 60 min per session. Patients received a physiotherapy treatment using a fascial therapy protocol for patients with hemophilia. Main Outcome Measures: The joint status was evaluated using the Hemophilia Joint Health Score; pain was assessed with the Visual Analogue Scale; the range of movement was evaluated using a universal goniometer; the flexibility of the hamstring muscles was assessed with the fingertip-to-floor, and the lumbar mobility through the Schöber test. Results: We observed significant differences in the experimental group for both quality of life and illness behavior. There was no significant improvement in the joint status; however, an improvement was noted in terms of perception of pain in the ankle. Conclusions: A physiotherapy program based on fascial therapy is safe in patients with hemophilia. Fascial therapy may improve joint status, pain, and mobility in patients with hemophiliac arthropathy of the knee and ankle. [ABSTRACT FROM AUTHOR]

To conduct a systematic review of the literature reporting efficacy and safety of recombinant factor VIIa (rFVIIa) for the treatment of bleeding in acquired haemophilia and, if data permitted, undertake a meta-analysis of the current evidence. MEDLINE®, Embase®, and the Cochrane Central Register of Controlled Trials (CENTRAL) databases were searched for all studies on rFVIIa treatment in acquired haemophilia. Heterogeneity of included studies was measured using the inconsistency index (I2). Of the 2353 publications screened, 290 potentially relevant references were identified: 12 studies published in 32 publications met inclusion criteria. In total, 1244 patients and 1714 bleeds were included (671 patients received rFVIIa treatment for 1063 bleeds). In seven of 12 studies, the initial dose of Recombinant FVIIa was 90 ± 10 μg/kg. Recombinant FVIIa was used as first-line therapy in the majority of cases. Median number of doses administered ranged from 10 to 28. Between 68 and 74% of bleeds were spontaneous, whereas 4-50% were traumatic. Thirty-nine to 90% of bleeds were severe. Haemostatic effectiveness was > 90% in 5/6 studies for both patient and bleed level. Recombinant FVIIa had a favourable safety profile with low risk of general adverse events and thromboembolic-associated events. The heterogeneity of the studies and data precluded a meta-analysis. Recombinant FVIIa demonstrated effectiveness for the treatment of bleeds and had a good safety profile. It is apparent from these data that there is a need for more standardised measures of clinical effectiveness in acquired haemophilia to enable comparison and pooling of results in the future. [ABSTRACT FROM AUTHOR]

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