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CZECH MEDICAL ASSOCIATION J. Ev. PURKYNĚ |
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Česky / Czech version | Trans. Hemat. dnes, 9, 2003, No. 2, p. 93–96. |
Mutation of the 5,10-C677TMethylenetetrahydrofolate
Reductase Gene in Young Patients with Venous Thromboembolism Malý R.1, Dulíček P.2, Vodičková L.1, Pešavová L.3 1I. interní klinika, Lékařská fakulta UK a Fakultní nemocnice, Hradec Králové 2II. interní klinika – Oddělení klinické hematologie, Fakultní nemocnice, Hradec Králové3Ústav klinické biochemie a diagnostiky, Fakultní nemocnice, Hradec Králové |
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Summary: Mild hyperhomocysteinemia has been shown to be a risk factor for venous thrombosis and may be
caused by genetic and/or environmental factors. The most common genetic variant that can result in
mild hyperhomocysteinemia is caused by thermolabile variant of the enzyme C677T methylenetetrahydrofolate
reductase (MTHFR). The frequency of the homozygous variant of MTHFR genotype was
observed in range 10 to 15 % and the heterozygosity for variant is more frequent in these subjects in
about 45% of the European population. The prevalence of a mutation in the MTHFR gene is slightly
higher in patients with venous thromboembolism. The frequency of MTHFR was assessed in a group of
115 consecutive patients (from 115 unrelated families) with first or recurrent episode of venous
thrombosis under the age of 50. The authors confirmed high prevalence (heterozygotes constituted
41.7% and homozygous 11.4%) of this mutation in young thrombophilic patients in accordance with
similar cohorts. MTHFR variant is not a risk factor for thrombosis itself. The authors continue this
study by measurement of fasting homocysteine and acid folic levels, with the aim of identification of
subgroup patients with MTHFR mutation who have the risk of venous thromboembolism.
Key words: venous thromboembolism, mild hyperhomocysteinemia, thermolabile variant of the C677T
methylenetetrahydrofolate reductase, young patients
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