ZSE-B Center for Hereditary Haemorrhagic Teleangiectasia

Hereditary haemorrhagic telangiectasia (synonym: Osler's disease, Osler-Rendu-Weber syndrome) is a rare hereditary disease of the blood vessels characterized by the occurrence of short-circuit connections of the vessels, the so-called arteriovenous malformations (AVMs). The changes can occur anywhere in the body, but are most frequently found in the mucous membranes of the nose and gastrointestinal tract, the lungs, liver and central nervous system (CNS).The most common clinical sign is spontaneous, recurrent nosebleeds, which often manifest themselves in early adolescence. Other symptoms include bleeding in the gastrointestinal tract, vascular changes in the external skin (telangiectasia), but also shortness of breath or strokes.

Diagnostic criteria (Curaçao criteria) for HHT/M. Osler (according to Shovlin et al. 2000):

• Positive family history (at least one first-degree relative)
• Recurrent, spontaneous nosebleeds (epistaxis)
• Typical, multiple telangiectasias (lips, oral cavity, fingers; nose)
• Organ involvement (visceral manifestation, lungs, liver, stomach, intestines, CNS)
• In the Clinical Department of Pneumology at the MHH, we offer you diagnostics and therapy for lung involvement in HHT, including, for example, checking blood oxygen levels using blood gas tests and screening examinations for pulmonary AVMs (so-called bubble echocardiography), as well as non-invasive and invasive diagnostics and therapy in cooperation with colleagues from the MHH Radiology and Surgery departments. As part of the multidisciplinary HHT center, we work closely with all disciplines at the MHH and can therefore coordinate and organize holistic care tailored to your symptoms.

Checklist for the outpatient appointment:

• A current referral from a pulmonologist/pneumologist for the appointment
• Your health card (health insurance card)
• Absolutely necessary: Your medication plan (standardized medication plan according to § 31a in SGB V, available from your family physician)
• If available: Preliminary findings and the last physician's letter
• If available: last CT scan on CD incl. findings or via upload portal
• If necessary: a transport ticket for the outward and return journey

Further information for patients

Further information for healthcare professionals