[Dr.Vad]

хорошо, вот Вам иной пример риска тромбофилий:

1.если есть тромбофилия в семье и у одного из них есть тромбоз:

If the proband had VTE and factor V Leiden (FVL) and/or prothrombin (PT)20210A, the HR for DVT was 2.77 (95%CI 1.21-4.82) in the carriers overall, and 5.54 (95%CI 3.20-187.00) in those homozygous or double heterozygous for FVL and PT20210A. If the proband had VTE and a deficiency of antithrombin (AT), protein C or S, the HR for DVT was 5.14 (95%CI 0.88-10.03) in the carriers overall, and 12.86 (95%CI 2.46-59.90) in those with AT deficiency.

2. если просто есть тромбофилический ген, но ни у кого нет тромбоза в семье

No increase in risk was found among the carriers who were relatives of the probands who were evaluated for reasons other than VTE
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In families with inherited thrombophilia the risk of venous thromboembolism is dependent on the clinical phenotype of the proband.
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примерно тоже верно и про мутации при channelopathy