Cite item


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.


  1. Dahlbäck В., Carlsson M., Svensson P. J. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc. Natl. Acad. Sci. USA 1993; 90: 1004-1008.
  2. Koster T., Rosendaal F. R., de Ronde H., Brief E., Vandenbroucke J. P., Bertina R. M. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia. Study. Lancet 1993; 342: 1503-1506.
  3. Rees D. C., Cox M., Clegg J. B. World distribution of factor V Leiden. Lancet 1995; 346: 1133-1134.
  4. Ridker P. M., Miletich J. P., Hennekens С. Н., Buring J. E. Ethnic distribution of factor V Leiden in 4047 men and women. Implications for venous thromboembolism screening. JAMA 1997; 277: 1305-1307.
  5. Svensson P. J., Dahlbäck B. Resistance to activated protein C as a basis for venous thrombosis. N. Engl. J. Med. 1994; 330: 517-522.

Copyright (c) 2014 Borodina E.N., Bachurina M.A.

Creative Commons License
This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies