Division of Pulmonary and Critical Care Medicine, Stanford School of Medicine, Stanford, CA.
Division of Pulmonary and Critical Care Medicine, Stanford School of Medicine, Stanford, CA; Vera Moulton Wall Center for Pulmonary Vascular Disease, Stanford, CA.
Chest. 2012 Jun;141(6):1598-1600. doi: 10.1378/chest.11-1402.
Pulmonary arterial hypertension (PAH) is a rare complication of hereditary hemorrhagic telangiectasia (HHT). The triggers that promote the development of PAH in HHT remain poorly understood. We present the case of a 45-year-old woman with decompensated right-sided heart failure secondary to newly diagnosed PAH. The clinical diagnosis of HHT was confirmed on the basis of recurrent spontaneous epistaxis, multiple typical mucocutaneous telangiectasia, and the presence of pulmonary arteriovenous malformation. There was also a suggestive family history. The patient was discovered to have active and extensive stimulant abuse in addition to HHT. We concluded that there may be a temporal relationship between exposure to stimulants and development of PAH in a host with underlying gene mutation. This case highlights the paradigm of PAH development after environmental exposure in a genetically susceptible host.
肺动脉高压（PAH）是遗传性出血性毛细血管扩张症（HHT）的罕见并发症。导致 HHT 中 PAH 发展的触发因素仍知之甚少。我们报告了一例 45 岁女性，因新诊断的 PAH 导致右侧心力衰竭失代偿。HHT 的临床诊断基于反复自发性鼻出血、多发典型黏膜皮肤毛细血管扩张和存在肺动静脉畸形。家族史也有提示。除 HHT 外，患者还被发现有活跃和广泛的兴奋剂滥用。我们推断，在存在潜在基因突变的宿主中，接触兴奋剂与 PAH 的发展之间可能存在时间关系。该病例突出了在遗传易感宿主中，环境暴露后 PAH 发展的范例。
