title: How to manage patients with hereditary haemorrhagic telangiectasia.
abstract: Hereditary haemorrhagic telangiectasia is a rare systemic autosomal dominantly inherited disorder of the fibrovascular tissue with a wide variety of clinical manifestations. Diagnosis is based on the clinical Curaçao criteria or molecular genetic testing. Dilated vessels can develop into telangiectases or larger vascular malformations in various organs, calling for an interdisciplinary approach. Epistaxis and gastrointestinal bleeding can result from these vascular defects. Various conservative and interventional treatments have been described for these conditions. However, no optimal therapy exists. Treatment can become especially difficult due to progressive anaemia or when anticoagulant or anti-thrombotic therapy becomes necessary. Screening for pulmonary arteriovenous malformations (PAVM) should be performed in all confirmed and suspected patients. Treatment by percutaneous transcatheter embolotherapy and antibiotic prophylaxis is normally effective for PAVM. Cerebral or hepatic vascular malformations and rare manifestations need to be evaluated on a case-by-case basis to determine the best course of action for treatment.
authors.affiliation: Department of Otorhinolaryngology, Essen University Hospital, Essen, Germany.
authors.forename: Urban W
authors.initials: UW
authors.lastname: Geisthoff
authors.affiliation: Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.
authors.forename: Ha-Long
authors.initials: HL
authors.lastname: Nguyen
authors.affiliation: Department of Haematology and Haemostaseology, Essen University Hospital, Essen, Germany.
authors.forename: Alexander
authors.initials: A
authors.lastname: Röth
authors.affiliation: Medical Practice for Haemostaseology and Transfusion Medicine, Saarbrücken, Germany.
authors.forename: Ulrich
authors.initials: U
authors.lastname: Seyfert
mesh_terms: D018798:Anemia, Iron-Deficiency / Q000209:etiology; D019072:Antibiotic Prophylaxis; D000925:Anticoagulants / Q000627:therapeutic use; D001165:Arteriovenous Malformations / Q000209:etiology; D019468:Disease Management; D004621:Embolization, Therapeutic; D004844:Epistaxis / Q000209:etiology / Q000517:prevention & control; D005343:Fibrinolytic Agents / Q000627:therapeutic use; D006471:Gastrointestinal Hemorrhage / Q000209:etiology; D006490:Hemostatics / Q000009:adverse effects / Q000627:therapeutic use; D006801:Humans; D006976:Hypertension, Pulmonary / Q000209:etiology; D002538:Intracranial Arteriovenous Malformations / Q000175:diagnosis / Q000209:etiology; D008099:Liver / Q000098:blood supply; D008168:Lung / Q000098:blood supply; D009389:Neovascularization, Pathologic / Q000188:drug therapy / Q000235:genetics; D015398:Signal Transduction; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D019851:Thrombophilia / Q000188:drug therapy / Q000209:etiology; D016212:Transforming Growth Factor beta / Q000502:physiology
chemical_list: D000925:Anticoagulants; D005343:Fibrinolytic Agents; D006490:Hemostatics; D016212:Transforming Growth Factor beta
keywords: Rendu-Osler-Weber disease; anticoagulation; epistaxis; hereditary haemorrhagic telangiectasia; vascular malformation