Cerebrovascular Manifestations of Hereditary Hemorrhagic Telangiectasia.

Abstract

Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu–Osler–Weber disease, is an autosomal-dominant genetic disorder affecting the vasculature in multiple organ systems. The first reports of the disease were published by several English physicians in the 19th century, including Henry Sutton, Benjamin Babington, and John Legg who described families of patients with recurrent nosebleeds. Between 1896 and 1907, Marie Rendu, William Osler, and Frederick Parkes Weber further described the disease by demonstrating the association between epistaxis, mucocutaneous lesions, and visceral arteriovenous malformations (AVMs). In 1909, Frederic Hanes was the first to coin the term HHT; however, the eponym lives on as a tribute to Rendu, Osler, and Weber.1 The pathognomic vascular lesions in HHT are telangiectasias and AVMs. These are frequently seen on the skin and mucus membranes and also in internal organs, such as the liver, lung, gastrointestinal track, and brain. Patients with HHT often present with a wide range of serious neurological, pulmonary, and gastrointestinal complications, such as cerebral and spinal AVMs, cerebral abscess, stroke, epistaxis, pulmonary AVMs (PAVMs), liver AVMs, and gastrointestinal bleeding.2–8 HHT is diagnosed clinically using the Curacao criteria.9 The 4 Curacao criteria are (1) spontaneous and recurrent epistaxis, (2) mucocutaneous telangiectasias (lips, oral cavity, face, and fingers) (3) visceral AVMs (brain, liver, lung, etc.), and (4) diagnosis of HHT in a first degree relative using the same criteria. Patients who meet ≥3 of the 4 criteria are labeled as definite HHT, whereas those with 2 of the 4 criteria are labeled as possible or suspected HHT.10 Patients with 0 or 1 criterion are considered unlikely to have HHT. Patients with HHT present a unique challenge to physicians because of the multisystemic nature of the disease. Because of the higher prevalence of cerebral and spinal vascular manifestations and associated complications, …