A CASE OF HEREDITARY THROMBOPHILIA AND WARFARIN SKIN NECROSIS

Abstract

A clinical case of hereditary thrombophilia caused by mutation of blood coagulation factor V (Leidan mutation) is presented in the paper. The peculiar features of this case are: first - heterozygote mutation manifested at the age of 30, second - development of a rare side effect of indirect oral anticoagulant - warfarin - skin necrosis. Warfarin necroses occur in deficiency of C and S proteins. Combination of genetic defects in the system of hemostasis and pathology of gastrointestinal tract originated from patient’s childhood led to essential changes in pharmacodynamics and pharmacokinetics of indirect anticoagulant. This clinical example demonstrates need in introduction of moleculogenetic testing into clinical practice not only for diagnosis, but for choosing drugs, as well. Pharmacogenetic approach can be one of the keys to individualization of drug therapy.

Keywords

Thrombophilia / Leiden mutation / warfarin / malabsorption syndrome / hypoalbuminemia / side effects of therapy / skin necrosis

References

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RIGHTS & PERMISSIONS

Borodina E.N., Bachurina M.A.