遗传性出血性毛细血管扩张症与肺动脉高压

Hereditary haemorrhagic telangiectasia and pulmonary artery hypertension

遗传性出血性毛细血管扩张症是一种罕见的以血管发育异常为主要表现的常染色体显性遗传疾病。肺高血压是其中比较少见的一类并发症,主要包括肝动静脉畸形所致的高心输出量肺高血压和肺小血管病变为主的肺动脉高压。文章将从临床表现、诊断治疗、发病机制以及病理生理全面阐述两种类型相关肺高血压。

Hereditary haemorrhagic telangiectasia （HHT） is a rare autosomal dominant disorder, characterised by the presence of vascular malformations. Pulmonary hypertension （PH） is a rare complication of HHT, including PH associated with high-output heart failure and liver vascular malformations and pulmonary arterial hypertension secondary to HHT. In the present review, the authors describe the clinical presentation, diagnosis and management of both PH presentations of HHT, as well as the underlying genetics and pathophysiology.