الفهرس 
THROMBOPHILIAOnly 14 pages are availabe for public view
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Abstract
Thrombophilia is being recognized as an increased tendency towards thrombosis through enhanced coagulation. Hereditary and acquired thrombotic risk factors continue to be the focus of active research and interest, as investigators seek to understand their role in the development of vascular pathology, morbidity and mortality.
Deep venous thrombosis (DVT) is the most common type of venous thromboembolism (VTE), involving both genetic and circumstantial risk factor.
The most common hereditary causes involved in the etiology of venous thrombosis are Factor V Leiden, the prothrombin gene G 20210A mutation, antithrombin III deficiency, protein C deficiency, protein S deficiency, and mutations in methylene tetrahydro folate reductase (MTHFR).
Methyl tetrahydrofolate reductase (MTHFR) (C677T) mutation is an enzyme involved in homocys-teine metabolism and increased homocysteine levels, and it was found to be a risk factor for venous thrombosis and stroke.
This study was conducted to evaluate the role of methyl tetrahydrofolate reductase (MTHFR) (C677T) mutation by using real time PCR technique in patients with deep venous thrombosis.
Peripheral blood sample were obtained from thirty patients suffering from deep venous thrombosis presented either during their first attack 20 (66.6%) patients and referred to as recent group, or with a single previous attack 5 (16.6%) patients and referred to as recurrent group or finally with a past history of DVT 5 (16.6%) patients and referred to as old group. Their ages ranged from 21 to 91 years, with median of 53.5. They were 15 males and 15 females with a male to female ratio 1:1.
Genotypic analysis of MTHFR mutation revealed that 8 patients (26.6%) had normal genotype (wild) type (group I), While 22 patients (73.3%) had (mutant) type (group II), 20 of them (66.6%) were heterozygous genotype and 2 (6.6%) were homozygous genotype.
Comparing both genotype of MTHFR gene mutation (wild type and mutant type both heterozygous and homozygous) as regards association with risk factors as obesity, DM, smoking and oral contraceptives, no statistical significance association were found for any of these parameters.
On studying the association between methyl-enetetrahydrofolate reductase (MTHFR) mutation with established risk factors for venous thrombosis, in spite that DM was a significant single predictor for DVT duplex pattern resulting of 80.0% of cases correctly classified. The addition of MTHFR improved the predictability with 90.0% of cases correctly classified. However, no other further significant association was detected between MTHFR mutation and any other parameters in this study.
from this study it is noteworthy to conclude that:
MTHFR mutation is a common genetic abnormality among DVT patients which occurs in high prevalence (73.3%) both heterozygous genotype and homozygous genotype. MTHFR C677T mutation alone appear to be independent risk factor for thromboembolic disorders. It plays a role in association with other risk factors as a predictor for diagnosis and not recurrence.