Heritable Thrombophilia | ||||
| Al-Azhar University Journal of Medical and Virus Researches and Studies | ||||
| Article 9, Volume 4, Issue 1, March 2022, Page 85-92 PDF (406.28 K) | ||||
| Document Type: Original Article | ||||
| DOI: 10.21608/aujv.2022.222831 | ||||
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| Abstract | ||||
| Venous thromboembolism (VTE) is a common source of morbidity and mortality in developed countries. Heritable risk factors (thrombophilia) for VTE can be identified in 30–50% of affected patients. Factor V Leiden, prothrombin 20210G>A, and deficiencies of antithrombin, protein C and protein S increase the risk of a first VTE. However, an individual’s thrombotic risk is determined by a complex interplay of genetic, acquired and circumstantial risk factors. Thrombophilia screening should only be ordered in a highly selected patient group, such as in patients with strong family history of recurrent unprovoked VTEs. Testing for heritable thrombophilia involves a range of complex coagulation-based tests along with genetic testing, testing is expensive, and the results can be affected by preanalytical variables. Current treatment for thrombophilia involves both prophylaxis with low-molecular-weight heparin and treatment involving heparin, warfarin or purified factor concentrate. Aim of the study is to spotlight on causes of inherited thrombophilia, screening and diagnosis. | ||||
| Keywords | ||||
| Antithrombin; Factor V Leiden; Protein C; Protein S; Prothrombin 20210G>A; Thrombophilia | ||||
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