遗传性出血性毛细血管扩张症(Hereditary Hemorrhagic Telangiectasia,HHT)是一种罕见的常染色体显性遗传病,以毛细血管扩张和出血为主要临床表现,发病率1/5000~1/10000[1]。该病基本病理变化表现为毛细血管或小动脉管壁变薄、弹力纤维缺乏、平滑肌缺乏,甚至毛细血管壁和小动脉壁仅由一层内皮细胞组成,导致毛细血管扩张、动静 Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disease with capillary dilatation and bleeding as the main clinical manifestations, the incidence of 1/5000 ~ 1/10000 [1] . The basic pathological changes of the disease manifested as thinning of the capillaries or arterioles wall, lack of elastic fibers, lack of smooth muscle, and even the capillary wall and arteriolar wall composed of only a layer of endothelial cells, leading to telangiectasia, movement