Wu Jian, Yuan Yuan, Wang Xin, Shao Dong-Ying, Liu Li-Guo, He Jian, Li Peng
Department of Anesthesiology, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China.
Department of Emergency Medicine, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China.
World J Clin Cases. 2021 May 6;9(13):3079-3089. doi: 10.12998/wjcc.v9.i13.3079.
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disease. Very few patients suffering from HHT present with associated pulmonary arterial hypertension (PAH), which may result in a poor prognosis. Here, we report a case of HHT with PAH. The patient's clinical manifestations and treatment as well as genetic analysis of family members are reviewed, in order to raise awareness of this multimorbidity.
A 45-year-old Chinese woman was admitted to the hospital to address a complaint of intermittent shortness of breath, which had lasted over the past 2 years. She also had a 30-year history of recurrent epistaxis and 5-year history of anemia. She reported that the shortness of breath had aggravated gradually over the 2 years. Physical examination discovered anemia and detected gallop rhythm in the precordium. Chest computerized tomography and cardiac ultrasound demonstrated PAH and hepatic arteriovenous malformation. The formal clinical diagnosis was HHT combined with PAH. The patient was treated with ambrisentan and her condition improved for a time. She died half a year after the diagnosis. Genetic testing revealed the patient and some family members to carry an activin A receptor-like type 1 mutation (c. 1232G>A, p. Arg411Gln); the family was thus identified as an HHT family.
We report a novel gene mutation (c. 1232G>A, p. Arg411Gln) in a Chinese HHT patient with PAH.
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遗传病。很少有HHT患者合并肺动脉高压（PAH），这可能导致预后不良。在此，我们报告一例HHT合并PAH的病例。回顾了患者的临床表现、治疗情况以及家庭成员的基因分析，以提高对这种合并症的认识。
一名45岁中国女性因间歇性气短症状入院，该症状已持续2年。她还有30年反复鼻出血病史和5年贫血病史。她表示气短在这2年中逐渐加重。体格检查发现贫血，并在心前区检测到奔马律。胸部计算机断层扫描和心脏超声显示有PAH和肝动静脉畸形。正式临床诊断为HHT合并PAH。患者接受了安立生坦治疗，病情一度有所改善。确诊半年后患者死亡。基因检测显示患者及其一些家庭成员携带激活素A受体样1型突变（c. 1232G>A，p. Arg411Gln）；因此该家族被确定为HHT家族。
我们报告了一名患有PAH的中国HHT患者中的一种新基因突变（c. 1232G>A，p. Arg411Gln）。
