Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report

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.

Keywords

antithrombin deficiency / protein C activity / mutation / variant / venous thromboembolism / anticoagulants

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Acknowledgements

The authors would like to thank the family for their participation in this study. This work was supported by grants from the National Natural Science Foundation of China (No. 81400185).

Compliance with ethics guidelines

Dong Wang, Min Tian, Guanglin Cui, and Dao Wen Wang declare no conflict of interest. All the participants signed written informed consent, and the study was approved by the institutional ethics committees of Tongji Hospital. Principles reflected in the Helsinki Declaration were followed during our experiments.

Electronic Supplementary Material

Supplementary material is available in the online version of this article at http://dx.doi.org/ 10.1007/s11684-017-0553-4 and is accessible for authorized users.

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2017 Higher Education Press and Springer-Verlag Berlin Heidelberg