[Hereditary hemorrhagic telangiectasia: symptoms and diagnostic latency]. / Hereditäre hämorrhagische Teleangiektasie: Symptome und diagnostische Latenz.

OBJECTIVE: Patients with hereditary hemorrhagic Telangiectasia (HHT) suffer from a rare and systemic disease which is characterized by vascular malformations leading to a variety of different symptoms. MATERIAL AND METHODS: A retrospective review of patients who were referred to our new HHT Center of Excellence (HHT COE) for evaluation and treatment between April 2014 and August 2019 was performed. RESULTS: 235 patients were treated at the West German HHT Center. 83 % of these were diagnosed with definite HHT (235/282, 83 %) and 9 % with possible HHT (26/282). The average latency between first manifestation and definite diagnosis of HHT was 18 years. Several initial symptoms were direct or indirect signs of bleeding (224/241, 93 %). In 83 % of the patients HHT was reported having caused their degree of disability. Older, female patients and those with severe epistaxis suffered from chronic iron deficiency anemia, took iron preparations (148/261, 57 %) and received 9 blood transfusions on average (± standard deviation: 41, minimum - maximum: 0-400, number of patients: 218). 10 % of all patients tolerated anticoagulant or antiplatelet agents. 74 % of patients with HHT used nasal creams/sprays/oils (177/238) and reported fewer bleedings compared to patients without nasal care (ESS: T-Test: 3.193; p = 0.003; anemia: Chi-square: 5.173; p = 0.023). CONCLUSIONS: The diagnostic latency of HHT was almost two decades. Patients with HHT particularly suffered from recurrent epistaxis, which was mostly treated with nasal care and coagulative therapies. Antiplatelet or anticoagulant agents can be used in patients with HHT with caution if indicated.

[Implementation and development of a center for hereditary hemorrhagic telangiectasia]. / Aufbau und Entwicklung eines interdisziplinären Zentrums für hereditäre hämorrhagische Teleangiektasie.

OBJECTIVE: Hereditary Hemorrhagic Telangiectasia (HHT) is a rare and systemic disorder which is characterized by recurrent epistaxis, mucocutaneous telangiectases, and visceral arteriovenous malformations (AVM). An interdisciplinary concept is recommended. MATERIAL AND METHODS: We performed a retrospective review of consecutive patients who were referred to our newly established HHT Center of Excellence (HHT COE) for evaluation and treatment between April 2014 and August 2019. RESULTS: A network of over 20 departments was established at the University Hospital Essen. In 261 of the 282 patients (93 %), who were referred to the hospital's COE, the HHT diagnosis was at least possible. Most patients suffered from several symptoms (epistaxis and / or telangiectasia: > 80 %, visceral involvement: 65 %) and received a variety of treatments, often in a multidisciplinary setting. Alongside this direct treatment, the COE leader manages the coordination of the center and its public relations, which involves more than 900 e-mails per year. International collaboration and exchanges of expertise within the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) can improve the treatment of patients with HHT particularly where these cases are complex. CONCLUSIONS: An HHT COE provides an interdisciplinary network where highly specialized diagnostic and therapeutic processes can be updated and optimized continuously.