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The burden of severe haemophilia A (HA) has been studied extensively owing to the higher bleeding frequency and associated treatment requirements, leaving a clear unmet need for research focused on the burden of mild and moderate HA.

Background: Haemophilic arthropathy (HA) is a major complication in haemophilia. Collagens IV, XV and XVIII are responsible for maintaining the integrity of the vessel wall in the joint. Following joint remodelling and damage, the short isoform of collagen type XVIII (COL‐18N) is degraded, releasing measurable fragments. Our goal was to quantify the specific isoform COL‐18N in haemophilia A patients and to assess its relation to the clinical and radiological data as well as haemophilia joint health score (HJHS), functional independence score for haemophilia (FISH), and haemophilia quality of life (Haemo‐Qol). Methods: This cross‐sectional study included 50 haemophilia A patients recruited from the Paediatric Haematology and Oncology unit, Ain Shams University, Cairo, Egypt. Quantification of COL‐18N was done by ELISA. Assessment of joint state clinically using FISH and HJH scores and radiologically by X‐rays and ultrasound. Results: Haemophilia A patients had significantly higher median COL‐18N levels compared to the control group. Inhibitor positive and negative haemophilia A patients as well as those on non‐steroidal anti‐inflammatory drug and those not had comparable COL‐18N levels. Patients with ≥2 target joints had significantly higher COL‐18N level compared to those with one or those without target joints. There were significant positive correlations between COL‐18N level and the total HJHS, Haemo‐Qol, the HEAD‐US score and annual bleeding rate. Conclusion: Our results demonstrated a high level of COL‐18N in haemophilia A patients and argued its benefit as a potential marker for monitoring the development of haemophilic arthropathy and tailoring the optimal treatment to prevent further joint damage. [ABSTRACT FROM AUTHOR]

Osteoporosis is widely recognized as a major health problem, and considerable resources are spent screening, diagnosing, and treating this disease in postmenopausal women. Adults with hemophilia have unique factors that place them at an increased risk for developing osteoporosis including periods of immobilization after bleeds, impaired joint mobility that may limit weight bearing physical activity, and infection with Hepatitis C virus (HCV) and/or human immunodeficiency virus (H IV). Several publications reportthe prevalence of osteoporosis in adults with hemophilia to being the range of zg% and 50%.The severity of hemophilicjoint arthropathy appears to be the strongest predictor of significant bone loss in patients with hemophilia. The relative contribution of other risk factors, including HIV and HCV, is less well defined. The clinical significance of decreased bone mineral density as measured by dual energy X-ray absorptiometry (DXA) to fracture risk in men, and in particular younger men, is also unclear. We recommend screening adult patients with hemophilia with documented fragility fractures, in those with severe joint arthropathy, and in those patients > 50 years of age with additional risk factors such as HIV/HCV infection or low BMI. Adequate vitamin D and calcium intake, weight bearing physical activity, and interventions to maintain joint mobility are recommended for all hemophilia patients. The role of pharmacologic agents, including bisphosphonates, is untested, and they should be reserved for those with documented osteoporosis and fragility fractures or additional risk factors that place them at high risk for developing fragility fractures. [ABSTRACT FROM AUTHOR]