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2021, Number 1

Rev Hematol Mex 2021; 22 (1)

Hyperhomocysteinemia thrombophilia secondary to MTHFR gene mutation

Hennessey-Calderón DC, Remolina-Murillo N, Queremel-Milani DA
Full text How to cite this article

Language: Spanish
References: 18
Page: 56-61
PDF size: 226.90 Kb.


Key words:

Hyperhomocysteinemia, Thrombosis, Thrombophilia, MTHFR gene mutation.

ABSTRACT

Background: The formation of a clot within the lumen of any blood vessel (arterial or venous) is known as thrombosis. The main factors described in the development of thrombosis are hypercoagulability, blood stasis and endothelial injury (Virchow’s triad). Nonetheless, the etiology of thrombotic disease is multifactorial, which requires a thorough analysis to obtain the appropriate diagnosis and treatment.
Clinical case: A 79-year-old female patient who developed progressive necrosis from the toes of the left foot, without evidence of any significant other previous or concomitant vascular damage, which, due to its clinical development, was a diagnostic challenge and required multidisciplinary intervention. Finding a hyperhomocysteinemia secondary to a MTHFR gene mutation.
Conclusions: Arterial and venous thrombotic disease and hyperhomocysteinemia have multiple causes, in the latter, non-genetic determinants act mainly by altering blood concentrations of B complex vitamins.


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Rev Hematol Mex. 2021;22