Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu)

Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by mucocutaneous telangiectasias and visceral AVMs (pulmonary, cerebral, hepatic). Manifestations: recurrent epistaxis, GI bleeding, iron-deficiency anemia, and AVM-related complications (stroke/brain abscess/high-output HF). Treatment: epistaxis control; screen and embolize pulmonary/cerebral AVM; manage hepatic AVM; iron replacement; genetic counseling; family screening.

Common Symptoms

Recurrent epistaxis; telangiectasias; iron-deficiency anemia; AVM complications

Causes and Pathogenesis

ENG/ACVRL1/SMAD4 mutations cause defective vascular remodeling, leading to telangiectasia and AVM.

Treatment

Epistaxis control; screen/embolize AVM; iron replacement; family screening

Preventive Measures

Screen family; treat AVM before 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.