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Thrombophilias or Clotting Disorders

Thrombophilias are inherited or acquired conditions, which predispose an individual to thromboembolism (blood clots). This is due to an imbalance between certain blood clotting factors and anti-clotting proteins in the blood. As many as one in five people in the United States is a carrier of a type of thrombophilia. There is limited information in medicine today regarding the testing and treatment criteria of thrombophilias, but studies are emerging.

Although most women with thrombophilias have healthy pregnancies, thrombophilias can contribute to a number of pregnancy complications. These include recurrent first trimester pregnancy losses, second or third trimester stillbirths, placental abruption (when the placenta separates from the uterine wall before delivery), preeclampsia less than 37 weeks gestation (high blood pressure and presence of protein in the urine), fetal demise and poor fetal growth. Several of these problems are believed to result from blood clots in placental blood vessels that lead to changes in the placenta and reduced blood flow to the fetus. As yet, no proven cause and effect relationship has been shown to exist between thrombophilias and failed embryo implantation, poor IVF outcome or very early pregnancy losses (chemical pregnancy).

Pregnant women in general are more likely than non-pregnant women to develop venous thromboembolism (VTE), or development of a blood clot in a vein. This is due to the normal pregnancy-related changes in the blood clotting system in order to limit blood loss during labor and delivery. Pregnant women with a thrombophilia are at a higher risk of developing VTE. Studies suggest that more than half of pregnant women who develop a VTE have an underlying thrombophilia disorder.

Women with a personal or family history of blood clots, pulmonary embolism (blood clot in the lung), strokes, low platelet counts, a history of pregnancy complications including stillbirth, preterm preeclampsia, placental abruption, recurrent pregnancy loss or poor fetal growth due to undetermined causes should be considered for testing

Some pregnant women with thrombophilia are treated with daily injections of heparin, a blood-thinning drug, which does not cross the placenta and is safe for the baby. In some cases, physicians may recommend low doses of aspirin along with heparin. Newer, but more expensive drug known as lovenox may also be used instead of heparin with fewer side effects as a single daily dose. Not all pregnant women with a thrombophilia may need this combination treatment during pregnancy.

Patients with the inherited type of these disorders may benefit from genetic evaluation because of the possibility of passing these genes on to the offspring. In certain types of thrombophilias testing of family members may be necessary due to the inherited characteristic of these disorders and some patients may need life-long prophylaxis. Dr. Bayrak recommends a detailed consultation to identify and confirm the diagnosis, and its impact during pregnancy and following delivery prior to treatment of these disorders.