A case of hereditary thrombophilia in a Chinese Han patient with both antithrombin deficiency and Factor V Leiden: A case report and literature review.

  Vol. 38 (7) 2017 Neuro endocrinology letters Journal Article   2017; 38(7): 479-483 PubMed PMID:  29369598    Citation

: Hereditary thrombophilia is a blood coagulation disorder that increases the risk of venous thromboembolism, due to several genetic risk factors. Factor V Leiden(FVL) is the most common contributing factor to thrombophilia in the Caucasian population but very rare in Asian population and concurrent occurrence of antithrombin(AT) deficiency and FVL in Chinese Han population is even more rare. We report the case of a 22-year-old female who experienced recurrent intracranial venous thromboses, furthermore, color Doppler ultrasound showed multiple extracranial thromboses. Thrombophilia was suspected and screening tests indicated decreased AT activity and activated protein C sensitivity ratio, then further sequencing analysis identified missense mutations in SERPINC1 and F5. The patient's condition slightly improved after treatment with low molecular heparin during hospitalization followed by oral warfarin after discharge. The present report highlights a very rare case of thrombophilia with concurrent occurrence of AT deficiency and FVL in a Chinese Han patient, and our findings suggest that genetic testing is a reliable approach for identifying different risk factors.

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