“International Medical Service in Egypt.”

Factor V Lieden, Prothrombin 20210 & MTHFR Mutation.

Most patients presenting with thrombosis at a young age without a known cause should be worked up for a hereditary cause of their thrombophilia. Factor V Leiden accounts for about 20% of all inherited forms of thrombophilia. 

The increased thrombotic risk for the heterozygous carriers of the factor V Leiden mutation is about 5-10 times the normal population; the risk in subjects with the homozygous mutation is increased about 50-100 fold.

Clinical Utility:

Venous Thromboembolic Disorders especially in cases before 50 years of age, unprovoked cases, recurrent cases or cases affected at an unusual sites (cerebral,mesenteric,portal and hepatic veins ).

Recurrent pregnancy loss. (The prevalence of factor V Leiden is 8% among women with a history of recurrent pregnancy loss, compared to 3.7% among women with no history of pregnancy loss).

First degree relatives of symptomatic carriers of factor V Leiden could be screened for the presence of the mutation.

At Alfa Laboratories, we provide our clients, in addition to the conventional tests, with the following Laboratory Evaluation for Inherited.

Causes of Thrombophilia:

Factor V Leiden
MTHFR (Methylene Tetrahydro Folate Reductase)
Prothrombin 20210
Protein C Activity
Protein S Activity
Antithrombin III


Adcock DM, Fink L, Marlar RA. A laboratory approach to the evaluation of hereditary hypercoagulability. Am J Clin Pathol 1997, 108:434-449.
Svensson PJ, Dahlback B. Resistance to activated protein C as a basis for venous thrombosis. N EngI J Med 1994; 330:517-22.
Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (APC-resistance). Blood 1995; 85: 1504-8.
Ridker PM, Miletich JP, Buring JE, Ariyo AA, et al. Factor V Leiden mutation as a risk factor for recurrent pregnancy loss. Ann Intern Med 1998; 128:1000-3

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