Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report.
10.1007/s11684-017-0553-4
- Author:
Dong WANG
1
;
Min TIAN
1
;
Guanglin CUI
2
;
Dao Wen WANG
1
Author Information
1. Institute of Hypertension and Department of Internal Medicine, Division of Cardiology, Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiological Disorders, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
2. Institute of Hypertension and Department of Internal Medicine, Division of Cardiology, Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiological Disorders, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China. cuiguanglin@tjh.tjmu.edu.cn.
- Publication Type:Case Reports
- Keywords:
anticoagulants;
antithrombin deficiency;
mutation;
protein C activity;
variant;
venous thromboembolism
- MeSH:
Antithrombin III;
genetics;
Antithrombin III Deficiency;
etiology;
genetics;
China;
Female;
Humans;
Male;
Middle Aged;
Mutation;
Pedigree;
Protein C;
genetics;
metabolism;
Venous Thromboembolism;
complications;
genetics;
Young Adult
- From:
Frontiers of Medicine
2018;12(3):319-323
- CountryChina
- Language:English
-
Abstract:
Antithrombin and protein C are two crucial members in the anticoagulant system and play important roles in hemostasis. Mutations in SERPINC1 and PROC lead to deficiency or dysfunction of the two proteins, which could result in venous thromboembolism (VTE). Here, we report a Chinese 22-year-old young man who developed recurrent and serious VTE in cerebral veins, visceral veins, and deep veins of the lower extremity. Laboratory tests and direct sequencing of PROC and SERPINC1 were conducted for the patient and his family members. Coagulation tests revealed that the patient presented type I antithrombin deficiency combined with decreased protein C activity resulting from a small insertion mutation c.848_849insGATGT in SERPINC1 and a short deletion variant c.572_574delAGA in PROC. This combination of the two mutations was absent in 400 healthy subjects each from southern and northern China. Then, we summarized all the mutations of the SERPINC1 and PROC gene reported in the Chinese Han population. This study demonstrates that the combination of antithrombin deficiency and decreased protein C activity can result in severe VTE and that the coexistence of different genetic factors may increase the risk of VTE.
