遺伝性出血性毛細血管拡張症

Abstract

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Rendu-Weber disease, is an autosomal dominant disorder that results from multi-system vascular dysplasia. It is not a rare condition, but is under-recognized, and is characterized by the presence of mucocutaneous telangiec-tases and arteriovenous malformations (AVMs) of the brain, lung, liver, and spinal cord. Neurological manifestations may develop due to paradoxical embolisms from a pulmonary AVM or hemorrhage of AVMs of the brain and spinal cord. This article summarizes the clinical features of HHT as well as its treatment, and also emphasizes the need for a high index of suspicion for this disease in patients with characteristic clinical manifestations.