Demographic, clinical, and genetic evaluation of patients with suspected inherited thrombophilia

Abstract

INTRODUCTION: Inherited and acquired disorders of hemostasis cause thrombophilia. Thrombosis occurs earlier in individuals with multiple inherited hemostatic disorders. In this study, we aimed to evaluate the distribution of mutation types in patients with suspected heritable thrombophilia according to the presence of venous or arterial thrombosis. METHODS: Data pertaining to patients with suspected inherited thrombophilia who underwent genetic mutational analysis between September 1998 and December 2009 were retrospectively evaluated. RESULTS: The study included a total of 394 patients suspected of having inherited thrombophilia due to the presence of venous thrombosis (66.5%) or arterial thrombosis (33.5%). Of these patients, 202 (51.3%) were female and the mean age was 45.49 +- 15.08 years. Evaluation of risk factors for venous and arterial thrombosis revealed that smoking history, metabolic syndrome, and genetic mutations were more common among patients with arterial thrombosis compared to those with venous thrombosis. Venous thrombosis was found to be associated with older age, immobility, and history of surgery and prior embolism. Heterozygous MTHFR 677 mutation was significantly more common among patients with arterial thrombosis. Heterozygous FVL, homozygous FVL, and PG20210A mutations were significantly more common in patients with venous thrombosis compared to those with arterial thrombosis. DISCUSSION AND CONCLUSION: Heterozygous and homozygous FVL mutations and PG20210A mutation were associated with higher risk of venous thrombosis, while heterozygous MTHFR 677 mutation was associated with higher risk of arterial thrombosis.

Keywords

• inherited
• thrombosis
• mutation