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Thrombophilia Tests

Q: I recently had a pre-conception counseling session with my doctor. Everything looked good, she prescriped prenatals and the usual (I'm thinking of getting pregnant in the next year and I've never been pregnant before). Her nurse just called me and said that the doctor wants to do a thrombophilia panel of tests on me. I looked up a little bit about this test online and I'm wondering if it's normal for a doctor to want to do those tests on a healthy individual before that person gets pregnant? I don't have anything unusual in my history that would make me think I'm at a risk for venous thrombosis. I've left a message for the doctor but since it will probably be days before I hear back from her, I thought maybe you would have some insight. Thanks for any advice you have.

Dr. Donnica:
Well, you've stumped me! I can't think of why your doctor would order this as a "screening test" unless there's something in your history you haven't mentioned or perhaps she did screening clotting tests and the results came back abnormal. It is true that genetic risk factors predispose certain individuals to venous thrombosis and that pregnancy (and taking birth control pills) are also increased risk factors for venous thrombosis even in women who are not genetically predisposed. In general, thrombosis panels include tests for several genetic mutations: the Factor V Leiden R506Q mutation, Prothrombin (Factor II) 20210 G-A mutation, and the MTHFR 677 C-T variant.

The most common mutation associated with inherited thrombosis in American Caucasians is the Factor V Leiden mutation. Genetic heterozygotes for the Factor V Leiden mutation have an approximately 5 to 10-fold increased risk for venous thrombosis. The second most common mutation associated with hereditary thrombosis is the 20210 G-A mutation in the prothrombin (Factor II) gene, which is associated with increased plasma prothrombin levels. Heterozygote carriers of the prothrombin 20210 G-A mutation have an estimated 3 to 8-fold increased risk for venous thrombosis. In addition, compound heterozygosity for both the Factor V Leiden and the prothrombin 20210 G-A mutations tends toward earlier onset of thrombosis and greater severity compared to the presence of either mutation alone in the heterozygous state. In general, physicians refer patients for these tests in order to evaluate:

  • Patients with venous thrombosis
  • Cases of venous thrombosis in pregnant women or women taking oral contraceptives
  • Female smokers with myocardial infarction under age 50
  • Asymptomatic individuals with a family history of venous thrombosis
  • Individuals with relatives known to have a thrombophilia risk factor mutation
  • Women with recurrent pregnancy loss, unexplained severe preeclampsia, intrauterine fetal growth retardation, or stillbirth

Created: 4/8/2005  -  Donnica Moore, M.D.

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