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Colegio de Medicina Interna de México.

2022, Number 4

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Med Int Mex 2022; 38 (4)

Deep vein thrombosis associated to mutation in factor V Leiden, MTHFR and May-Thurner syndrome

Villagómez-Figueroa, Oscar; Infante-Sierra H, Marquina-Ramírez M, Castañeda-Gaxiola R

Language: Spanish
References: 27
Page: 933-941
PDF size: 386.27 Kb.


ABSTRACT

Background: Deep vein thrombosis involves a diagnostic challenge due to associated underlying diseases. Currently, there is an increase in the recognition of genetic variations related to venous thromboembolism, such as the mutation in factor V Leiden, polymorphisms in the methylenetetrahydrofolate reductase (MTHFR), and anatomical variants, such as May-Thurner syndrome.
Clinical case: A 33-year-old female patient with no chronic degenerative history, no use of oral or hormonal contraceptives, a history of low back pain of 10 months evolution. The patient showed livedo reticularis and edema, and changes in skin color and oppressive pain in the left pelvic limb, with data suggestive of deep vein thrombosis. Doppler ultrasound imaging confirmed extensive deep vein thrombosis. An angiotomography showed pulmonary thromboembolism. Low molecular weight heparin treatment was started promptly. After 72 hours, pharmaco-mechanical throm- bolysis was conducted in the left pelvic limb with subsequent diagnostic confirmation of May-Thurner syndrome by intravascular ultrasound imaging. Within the studies requested for the thrombophilic approach, the factor V Leiden and MTHFR mutation tests evidenced heterozygous variants. Anticoagulant treatment and follow-up without complications were continued for 12 months.
Conclusiones: Deep vein thrombosis is a multifactorial condition, reason why it is necessary to go further in its study and search for coagulopathies, as well as anatomical alterations in patients who present venous thromboembolism in unusual sites or at ages younger than 50 years.


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