Background: Venous thromboembolic (VTE) disease is a multifactorial pathology. It’s a disorder that includes deep vein thrombosis (DVT) and pulmonary embolism (PE). Hereditary thrombophilia plays a major role in the development of this disease because it’s predispose to thrombosis. The most common inherited thrombophilias are factor V Leiden, prothrombin G20210A; deficits in protein C, S and antithrombin.

Aims: Our objective was to determine the frequency of deficits in physiological coagulation inhibitors and activated protein C resistance in patients with VTE, and to analyze their epidemiological and clinical characteristics.

Methods: This retrospective study involved 379 patients with proven venous thrombosis, authenticated with medical imaging. These patients were selected according to the recommendations of GEHT. The thrombophilia assessment included the functional assay of physiological coagulation inhibitors and the search for activated protein C resistance.

Results: 379 patients were included in the study : 112 men and 267 women, a sex ratio M / F of 0.42. The mean age was 35 years. An hereditary thrombophilia was found in 42 patients (11,1% of the cases) : we found 01 case (0,2%) of antithrombin deficiency, 04 cases (1,1%) of protein C deficiency, 14 cases (3,7%) of protein S deficiency and 23 cases (6,1%) of activated protein C resistance. This is 13 men and 29 women, a sex ratio of 0,44. The mean age was 37 years. We found 31 cases of DVT, 10 cases of cerebral venous thrombosis and 01 case of  PE. 14 patients presented also acquired risk factors and 20 patients had thrombosis’s antecedents. The family investigation revealed 59 asymptomatic patients.

Conclusions: Hereditary thrombophilia plays a key role in the development of venous thromboembolism, hence the value of research.

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ISTH Congress Abstracts - https://abstracts.isth.org/abstract/frequency-of-hereditary-thrombophilia-in-venous-thromboembolic-disease/