Thrombophilia

Thrombophilia is now considered a multicausal disease, with an interplay of acquired and genetic risk factors. Recent studies have shown that patients with the 20210 A prothrombin mutation display remarkably similar characteristics compared with patients with Factor V Leiden mutation. It is evident that neither the Factor V Leiden mutation nor the 20210 A prothrombin mutation is a major risk factor for myocardial infarction or stroke, unless accompanied by other classical risk factors, including diabetes mellitus, hypertension and smoking. Finally, the homozygous form of the thermolabile methylenetetrahydrofolate reductase gene, although leading to elevated homocysteine levels, seems not to represent a genetic risk factor for venous thrombosis.