2021, Number 1
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Rev Hematol Mex 2021; 22 (1)
Hyperhomocysteinemia thrombophilia secondary to MTHFR gene mutation
Hennessey-Calderón DC, Remolina-Murillo N, Queremel-Milani DA
Language: Spanish
References: 18
Page: 56-61
PDF size: 226.90 Kb.
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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