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Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia–associated pulmonary hypertension
Author(s) -
Chen YanJun,
Yang QingHui,
Liu Dong,
Liu QianQian,
Eyries Mélanie,
Wen Liang,
Wu WenHui,
Jiang Xin,
Yuan Ping,
Zhang Rui,
Soubrier Florent,
Jing ZhiCheng
Publication year - 2013
Publication title -
european journal of clinical investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.164
H-Index - 107
eISSN - 1365-2362
pISSN - 0014-2972
DOI - 10.1111/eci.12138
Subject(s) - acvrl1 , medicine , telangiectasia , pulmonary hypertension , endoglin , genotype , mutation , gastroenterology , bmpr2 , phenotype , proband , bone morphogenetic protein receptor , pathology , genetics , bone morphogenetic protein , gene , biology , stem cell , cd34
Background Mutations in activin receptor‐like kinase‐1 ( ACVRL ‐1) or endoglin ( ENG ) are mostly identified in patients with hereditary haemorrhagic telangiectasia ( HHT ) associated with pulmonary hypertension ( PH ), but have not yet been studied in Chinese patients. Material and methods In this study, we investigated the clinical and molecular genetic features of Chinese patients with HHT ‐associated PH and analysed genotype/phenotype correlations in 14 probands and their relatives. Mutation analyses in ACVRL ‐1 , bone morphogenetic protein receptor type 2 ( BMPR 2 ) and ENG were performed in 14 Chinese Han patients with HHT ‐associated PH . Results The overall mutation rate was 71·4%, including 8 ACVRL ‐1 mutations and 2 ENG mutations, 6 of which were novel. Six patients were identified with arteriovenous malformations ( AVM s), including four patients with pulmonary AVM s and two patients with liver AVM s. Five of the patients with AVM s were identified with mutations. Most patients received targeted therapy for PH . Conclusions Our findings have revealed the clinical phenotype and molecular genetic features of HHT ‐associated PH in Chinese Han patients and indicate that mutations of ACVRL ‐1 and ENG are genetic predisposing factors in Chinese patients. Our data further addressed clinical management and have provided limited experience in treating this group of disorders.