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Vascular anomalies are orphan diseases that occur in all age groups and range from purely aesthetic to potentially life-threatening conditions. This thesis paper outlines the typical conferring problems in patient management and possible structural solutions for a better patient treatment in the future.A multi-perspective author panel consisting of key stakeholders from the German Interdisciplinary Society of Vascular Anomalies and the German Society for Surgery defined problem areas and possible solutions including quality indicators as criteria for certified interdisciplinary Vascular Anomalies Centers (VAC).According to the literature available, clearly defined nomenclature and nosological entities often remain unused in this field, and consented diagnostic and therapeutic evidence is rare. Expert opinions dominate and in some cases lead to disparate recommendations. Typical patient problems arise from this situation, exemplified in patient vignettes. Centralized and standardized patient treatment in interdisciplinary VAC may be a solution to this problem. These centers should agree on a set of general principles and quality indicators with an additional minimum set of structural and procedural criteria.The present position paper outlines perspectives for implementing certified interdisciplinary VAC. There is a need for a comprehensive nomenclature, access to interdisciplinary treatment centers, more scientific evidence, and further education in this rare group of diseases.Use of scientifically sound and patient-relevant criteria for certifying the interdisciplinary quality of VAC is expected to improve health care in Germany.

Einleitung: Patienten mit hereditärer hämorrhagischer Teleangiektasie (HHT) leiden unter einer systemischen Erkrankung des Gefäßbindegewebes. In vorherigen Studien konnten wir zeigen, dass die Immunabwehr der neutrophilen Granulozyten bei Patienten mit HHT eingeschränkt ist. [zum vollständigen Text gelangen Sie über die oben angegebene URL]

Patients with hereditary haemorrhagic telangiectasia (HHT), also known as Rendu–Osler–Weber syndrome, suffer from the consequences of abnormal vessel structures. These structures can lead to haemorrhages or shunt effects in liver, lungs and brain. This inherited and rare disease is characterized by mutations affecting the transforming growth factor-β (TGF-β)/Bone Morphogenetic Protein (BMP) pathway that results in arteriovenous malformations and studies indicate an impaired immune response. The mechanism underlying this altered immune response in HHT patients is still unknown. TGF-β interacts with hypoxia inducible factors (HIF), which both orchestrate inflammatory and angiogenic processes. Therefore, we analysed the expression of HIF and related genes in whole blood samples from HHT patients. We could show significantly decreased expression of HIF-1α on the mRNA and protein level. However, commonly known upstream regulators of HIF-1α in inflammatory responses were not affected, whereas HIF-1α target genes were significantly downregulated. There was no correlation between HIF1A or HIF2A gene expression and the severity of HHT detected. Our results represent a rare case of HIF-1α downregulation in a human disease, which underlines the relevance of HIFs in HHT. The study indicates an interaction of the known mutation in HHT and the dysregulation of HIF-1α in HHT patients, which might contribute to the clinical phenotype.

The update of this guideline was an important step to define standards for the use of sialendoscopy and other emerging minimally invasive techniques for the therapy of sialolithiasis and other obstructive salivary gland diseases. The current actualization was necessary to adapt the diagnostic and therapeutic algorithms to the current scientific knowledge. In this article they are presented in a shortened version with a focus on conservative therapeutic measures which are especially relevant for daily practice.Die Aktualisierung der Leitlinie war ein wichtiger Schritt, um mit zunehmender Verbreitung der Sialendoskopie und anderer minimalinvasiver Verfahren Behandlungsstandards zur Therapie der Sialolithiasis und der Speichelgangstenosen zu definieren. Im Rahmen der Aktualisierung wurden die diagnostischen und therapeutischen Algorithmen dem aktuellen Wissensstand angepasst. Sie werden in diesem Artikel in verkürzter Form mit Betonung der praxisrelevanten konservativen Therapieoptionen wiedergegeben.

Nosebleeds (epistaxis) are usually minor. Medical intervention is only necessary in about 6% of cases. The source of bleeding is frequently located in the anterior region of the nose (Kiesselbach's plexus). The estimated lifetime prevalence of epistaxis is 60%. Diffuse epistaxis is often a manifestation of systemic disease. Epistaxis is the leading symptom of Rendu-Osler-Weber disease (hereditary hemorrhagic telangiectasia, HHT). If intervention is required, the first-choice of treatment is bidigital compression for several minutes. Common therapeutic measures include local hemostasis using electrocoagulation or chemical agents, e.g., silver nitrate. Resorbable anterior nasal tampons or tampons with a smooth surface are also frequently employed. In case of failed surgical closure of the sphenopalatine artery, angiographic embolization is the method of choice.Meist handelt es sich beim Nasenbluten (Epistaxis) um kleinere Blutungen. Medizinische Maßnahmen sind nur in etwa 6 % der Fälle erforderlich. Oft liegt die Blutungsquelle im vorderen Nasenabschnitt (Locus Kiesselbachii). Die geschätzte Gesamtlebenszeitprävalenz für Epistaxis beträgt 60 %. Tritt die Epistaxis in diffuser Form auf, so ist das häufig die Manifestation einer systemischen Erkrankung. Beim M. Rendu-Osler-Weber (hereditäre hämorrhagische Teleangiektasie, HHT) stellt die Epistaxis das Leitsymptom dar. Erstmaßnahme der Wahl bei Interventionsbedarf ist die bidigitale Kompression über mehrere Minuten. Verbreitete Therapiemaßnahmen sind u. a. die lokale Blutstillung mittels Elektrokoagulation oder mit chemischen Mitteln wie Silbernitrat. Auch resorbierbare vordere Nasentamponaden oder Tamponaden mit glatter Oberfläche werden häufig eingesetzt. Beim Versagen des chirurgischen Gefäßverschlusses der A. sphenopalatina ist die angiographische Embolisation Methode der Wahl.

Background: Recurrent bleeding in patients with hereditary hemorrhagic telangiectasia (HHT) can lead to chronic iron deficiency anemia (CIDA). Existing research points to CIDA as a contributing factor in restless leg syndrome (RLS). The association between HHT-related symptoms and the prevalence of RLS was analyzed. Methods: An online survey was conducted whereby the standardized RLS-Diagnostic Index questionnaire (RLS-DI) was supplemented with 82 additional questions relating to HHT. Results: A total of 474 persons responded to the survey and completed responses for questions pertaining to RLS (mean age: 56 years, 68% females). Per RLS-DI criteria, 48 patients (48/322, 15%, 95% confidence interval (CI): 11–19%) self-identified as having RLS. An analysis of physician-diagnosed RLS and the RLS-DI revealed a relative frequency of RLS in HHT patients of 22% (95% CI: 18–27%). In fact, 8% (25/322, 95% CI: 5–11%) of the HHT patients had RLS which had not been diagnosed before. This equals 35% of the total amount of patients diagnosed with RLS (25/72, 95% CI: 25–46%). HHT patients with a history of gastrointestinal bleeding (prevalence ratio (PR) = 2.70, 95% CI: 1.53–4.77), blood transfusions (PR = 1.90, 95% CI: 1.27–2.86), or iron intake (PR = 2.05, 95% CI: 0.99–4.26) had an increased prevalence of RLS. Conclusions: Our data suggest that RLS is underdiagnosed in HHT. In addition, physicians should assess CIDA parameters for possible iron supplementation.

Hereditary hemorrhagic telangiectasia (HHT) is characterized by mucocutaneous telangiectases and visceral vascular malformations. Individuals suffering from HHT have a significantly increased risk of bacterial infections, but the mechanisms involved in this are not clear. White blood cell subpopulations were estimated with flow cytometry in 79 patients with HHT and 45 healthy individuals, and association with clinicopathological status was assessed. A prominent decrease in absolute numbers of T cells in HHT was revealed (0.7 (0.5&ndash, 1.1) vs. 1.3 (0.8&ndash, 1.6), 106/mL, p &lt, 0.05), and in multivariate regression analysis, hemoglobin level was associated with lymphopenia (OR = 0.625, 95% CI: 0.417&ndash, 0.937, p &lt, 0.05). Although no changes in absolute numbers of neutrophils and monocytes were observed, we revealed a significant impairment of neutrophil antibacterial functions in HHT (n = 9), compared to healthy individuals (n = 7), in vitro. The release of neutrophil extracellular traps (NETs) against Pseudomonas aeruginosa MOI10 was significantly suppressed in HHT (mean area per cell, mm2: 76 (70&ndash, 92) vs. 121 (97&ndash, 128), p &lt, 0.05), due to impaired filamentous actin organization (% of positive cells: 69 (59&ndash, 77) vs. 92 (88&ndash, 94), p &lt, 0.05). To conclude, this study reveals the categories of patients with HHT that are prone to immunosuppression and require careful monitoring, and suggests a potential therapeutic strategy based on the functional activation of neutrophils.

[Background] Hereditary hemorrhagic telangiectasia (HHT) is a multisystemic inherited vascular dysplasia that leads to nosebleeds and visceral arteriovenous malformations (AVMs). Anti-angiogenic drugs thalidomide and bevacizumab have been increasingly used off-label with variable results. The HHT working group within the ERN for Rare Multisystemic Vascular Diseases (VASCERN), developed a questionnaire-based retrospective capture of adverse events (AEs) classified using the Common Terminology Criteria for Adverse Events., [Results] Sixty-nine HHT patients received bevacizumab, 37 (50.6%) for high output cardiac failure/hepatic AVMs, and 32 (49.4%) for bleeding; the 69 patients received bevacizumab for a mean of 11 months for a total of 63.8 person/years treatment. 67 received thalidomide, all for epistaxis and/or gastrointestinal bleeding; they received thalidomide for a mean of 13.4 months/patient for a total of 75 person/years treatment. AEs were reported in 58 patients, 33 with bevacizumab, 37 with thalidomide. 32 grade 1–3 AEs related to bevacizumab were reported with an average incidence rate of 50 per 100 person-years. 34 grade 1–3 AEs related to thalidomide were reported with an average incidence rate of 45.3 per 100 person-years. Bevacizumab AEs were more common in females (27 AEs in 46 women) than males (6 in 23, p, [Conclusions] With potential increase in use of Bevacizumab and Thalidomide in HHT patients, data presented support appropriate weighing of the toxicities which can arise in HHT settings and the practice recommendations for their prevention and management.

Eine Patientin kommt zu Ihnen in die Praxis und bittet Sie wegen Nasenbluten um Hilfe. Zuerst steht die Unterscheidung, ob sie akut oder rezidivierend blutet. Lesen Sie im nachfolgenden Beitrag, wie Sie bei akutem Nasenbluten weiter vorgehen sollten (rezidivierendes Nasenbluten in der nachsten Ausgabe).

Hereditary hemorrhagic teleangiectasia (HHT or Rendu-Osler-Weber Syndrome) is an inherited autosomal dominant disorder of the vascular connective tissue. The resulting vascular malformations can occur in virtually any organ. Nosebleeds can massively impact on the quality of life of those afflicted. However, visceral manifestations are likely to be more serious, and may be comparable with a "ticking time bomb". Most commonly affected are the vascular systems of the lungs, liver, brain and gastrointestinal tract. Screening is recommended--at least with regard to the lungs. Difficult constellations of this complex condition may be successfully managed by an interdisciplinary approach.

Numerous internal diseases can express themselves in the form of ENT manifestations. Epistaxis is one of the most common emergencies seen by the ENT specialist. Possible underlying systemic etiologies may be hypertension, systemic anticoagulation or even rare entities such as hereditary hemorrhagic telangiectasia. Internal-medical conditions underlying hoarseness are usually injuries to the recurrent nerve with lesions of the thyroid gland and mediastinum being prominent. Modern electrophysiological techniques permit early prognostication of the chances of healing a vocal cord paresis. A number of surgical procedures for improving vocal problems in the treatment of irreversible paresis are available. Unclear cervical swellings prompt a wide range of possible differential diagnoses that differ dramatically in terms of both treatment and outcome. For this reason, a rational, interdisciplinary diagnostic work-up is essential. In light of the risk of delaying the diagnosis and worsening the outcome, uncritical primary sampling of such tissue must be avoided.