Faughnan M E, Granton J T, Young L H
Keenan Research Centre, St Michael's Hospital, Toronto, ON, Canada.
Eur Respir J. 2009 May;33(5):1186-94. doi: 10.1183/09031936.00061308.
Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder, characterised by the presence of vascular malformations. The pulmonary vascular complications of HHT include pulmonary arteriovenous malformations, pulmonary hypertension associated with high-output heart failure and liver vascular malformations and, finally, pulmonary arterial hypertension secondary to HHT. In the present review, the authors describe the clinical presentation, diagnosis and management of all three pulmonary vascular presentations of HHT, as well as the underlying genetics and pathophysiology.
遗传性出血性毛细血管扩张症（HHT）是一种罕见的常染色体显性疾病，其特征为存在血管畸形。HHT的肺血管并发症包括肺动静脉畸形、与高输出量心力衰竭相关的肺动脉高压以及肝血管畸形，最后还有继发于HHT的肺动脉高压。在本综述中，作者描述了HHT的所有三种肺血管表现的临床表现、诊断和管理，以及潜在的遗传学和病理生理学。
