Article
Clinical and genetic analysis of pulmonary embolism induced by a novel gene mutation of the antithrombin Ⅲ gene
Wang Yang, He Fangkai, Ning Weiwei, Wang Jiajia, Su Nan, Liu Chao, Guan Xiaojun
Published 2021-12-12
Cite as Chin J Tuberc Respir Dis, 2021, 44(12): 1085-1089. DOI: 10.3760/cma.j.cn112147-20210326-00200
Abstract
ObjectiveTo improve the clinical management of acute pulmonary embolism caused by antithrombin Ⅲ (AT Ⅲ) deficiency through gene sequence analysis of the SERPINC1 gene.
MethodsThe diagnosis and treatment of a 33-year-old male patient with chest pain was reviewed. All exon sequences and flanking regions of 7 related genes of thrombophilia were subjected to detection by high-throughput next generation sequencing technology. The gene mutation was inquired in the gene database and the pathogenic probability of the mutant gene was predicted by Mutation Taster software.
ResultsThe patient was diagnosed with acute pulmonary embolism (intermediate-low risk), with the ATⅢ activity less than 50%. Anticoagulation with nadroparin calcium combined with warfarin was administrated, but hemoptysis was aggravated, and then the medication was replaced by anticoagulant of rivaroxaban. In the end, the embolus was gradually absorbed. A heterozygous missense mutation of c.1148T>A (p.L383H) in theSERPINC1 gene was detected. The gene database and Mutation Taster confirmed the mutation as a new pathogenic mutation with the pathogenic probability of 0.999 999 851 200 991.
ConclusionsC.1148T>A (p.L383H) is a novel pathogenic mutation inSERPINC1 gene that complements and updates the gene mutation spectrum of hereditary AT Ⅲ deficiency. The new oral anticoagulant rivaroxaban may be used as the first-line treatment for these patients.
Key words:
Pulmonary embolism; Hereditary antithrombin Ⅲ deficiency; SERPINC1; Rivaroxaban
Contributor Information
Wang Yang
Department of Respiratory and Critical Care Medicine, the First Affiliated Hospital of Soochow University, Suzhou 215000, China
He Fangkai
Division of Lung Disease, Kunshan Hospital Affiliated to Nanjing Chinese Medicine University, Suzhou 215300, China
Ning Weiwei
Department of Respiratory and Critical Care Medicine, the First Affiliated Hospital of Soochow University, Suzhou 215000, China
Wang Jiajia
Department of Respiratory and Critical Care Medicine, the First Affiliated Hospital of Soochow University, Suzhou 215000, China
Su Nan
Department of Respiratory and Critical Care Medicine, the First Affiliated Hospital of Soochow University, Suzhou 215000, China
Liu Chao
Department of Respiratory and Critical Care Medicine, the First Affiliated Hospital of Soochow University, Suzhou 215000, China
Guan Xiaojun
Department of Respiratory and Critical Care Medicine, the First Affiliated Hospital of Soochow University, Suzhou 215000, China
