Osler-Weber-Rendu syndrome

Abstract

Hereditary hemorrhagic telangiectasia (HHT) was first reported in 1896, when Henri Jules Louis Rendu described the classical picture of HHT as a disease consisting mucocutaneous telangiectasias, epistaxis and familial nature. The following decade offered more accurate case descriptions of the disease by William Osler (1900) and Frederick Parkes Weber (1907), thus the eponym “Rendu-Osler-Weber” was created. The vascular malformations in HHT consist of direct arteriovenous connections through thin walled aneurysms, and range from small telangiectasia (predominantly mucosal, skin, and visceral) to larger visceral arteriovenous malformations (AVM). Although there is a wide array of manifestations ranging from asymptomatic to life-threatening, most of the time, the disease presents with a history of recurrent spontaneous epistaxis, symptomatic anemia (fatigue, palpitations, dizziness, etc.), and in some cases, chronic GI bleeding. “Curacao criteria” are applied to clinically diagnose the patients with HHT and include recurrent spontaneous nosebleeds, mucocutaneous telangiectasia, visceral involvement, and first-degree family history of HHT. If ≥ 3 criteria are met, the diagnosis is definitive, if 2 are met, then HHT is suspected and when less than 2 criteria are present, HHT is labeled unlikely. In suspected cases, diagnosis can be confirmed by genetic mutation testing. Treatment of the disease is multimodal, primarily focusing on limiting the bleeding from various sites and correcting the anemia with iron supplementation and blood transfusion when necessary. Symptomatic therapy helps in preventing bleeding but do not target the actual cause of the disease. However, these systemic therapies may cause adverse effects like thromboembolism, hypertension, peripheral neuropathy, etc. , that is why, first, a cost benefit assessment should be initiated. According to the curacao criteria, the present study describes a typical case of HHT, with fulfilled criteria for definite diagnosis, also confirmed by a genetic test.