Hereditary Hemorrhagic Telangiectasia

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu) is an autosomal dominant vascular dysplasia causing mucocutaneous telangiectasias and visceral arteriovenous malformations (pulmonary, cerebral, hepatic). Clinical: recurrent epistaxis, GI bleeding, and AVM complications (stroke/abscess/high-output HF). Treatment: manage epistaxis (cautery/septal dermoplasty); screen for pulmonary/cerebral/hepatic AVM; embolize AVMs; iron replacement; genetic counseling.

Common Symptoms

Recurrent epistaxis; telangiectasias; GI bleeding; AVM complications; autosomal dominant

Causes and Pathogenesis

ENG/ACVRL1 mutations cause abnormal vessel wall formation, leading to telangiectasia and AVM.

Treatment

Manage epistaxis; screen/embolize AVMs; iron replacement; genetic counseling

Preventive Measures

Early screening for AVM; avoid venous thrombosis/right-to-left shunt complications.

Department to Visit

It is recommended to visit the Hematology/ENT/Pulmonology/Neurology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.