The prothrombinic variant G20210A (factor II) is present in 2% of european population, in 6% of patients with venous thrombosis and in 18% of patients with familiar thrombophilia. The risk of venous thrombosis, with or without thromboembolism, is 3-4 fold higher in heterozygous subyects compared to non carriers. In the absence of valid epidemiological data, non available for the rarity of this mutation, it is still not clear the real risk value for thrombotic episodes in subjects which are homozygous for the 20210 variant, but surely it is much more higher compared to the heterozygosity condition.
In young women assuming oral contraceptive, the prothrombin mutated variant 20210 predisposes also to myocardial infarction; this variant has also been associated to cryptogenic youth cerebral strokes. Like all the other genetic polymorphic variants (SNPs) predisposing to thrombosis, also this SNP exerts its action principally in presence of triggering environmental risk factors like long time imobilization, fractures, surgery, estro-progestinic assumption (oral contraceptive, replacement therapy during menopause). During pregnancy it can be the cause of complications such as miscarriage, fetal growth restriction, pre-eclampsia). Of interest is the association between prothrombinic genetic variant and arterial thrombosis, especially the one related to myocardial infarction and cerebral stroke, in tobacco smokers.
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