Thrombophilia, or a hypercoagulable state, is a condition related to the increased tendency of blood to clot (thrombosis). People can inherit it or have it because of another illness (an acquired disorder). Sometimes, serious and life-threatening complications result.

Inherited causes involve mutations in certain genes. People get these genes from their parents. The most common is factor V Leiden mutation. Others are a prothrombin mutation, hyperhomocysteinemia, and increased factor VIII activity. Prothrombin is a clotting protein in blood. Hyperhomocysteinemia means that there is too much of the amino acid homocysteine in the blood, which is related to not having enough of certain vitamins. Other rare inherited disorders include deficiency (not enough) of protein C, protein S, and antithrombin III (another protein that helps blood clotting). These disorders are often related to complications in pregnancy.

Antiphospholipid antibody syndrome is the most common cause of acquired thrombophilia. Antiphospholipid antibody is thought to be an abnormal blood protein. The cause of this syndrome is unknown, but it’s not contagious or passed from parents to children.

People can get blood clots in veins (venous thrombosis) or arteries (arterial thrombosis). Venous clots occur most often in deep veins of the legs and cause swelling, pain, redness, and warmth in the leg. Arterial thrombosis occurs most often in vessels in the head. They cause symptoms of stroke (e.g., slurred speech, paralysis, numbness, weakness, loss of vision, swallowing problems). People with antiphospholipid antibody syndrome have too much blood clotting. The clotting is usually related to problems with pregnancy (e.g., miscarriage, premature birth) and having antiphospholipid antibodies in the blood.

For diagnosis, the health care provider looks for clotting disorders, especially clots occurring in people younger than 50, repeated clots without an obvious cause, clots in unusual places, clots during or after pregnancy, and loss of a baby during pregnancy. The health care provider will order tests to rule out the inherited and acquired disorders. Usually, these are blood tests (e.g., Factor V Leiden, protein C, protein S, lupus anticoagulant). Imaging studies can be used to locate clots. For example, ultrasonography will show clots in deep veins of the leg.

Medicine will be prescribed to thin the blood. Common drugs include heparin (given intravenously), low-molecular-weight heparin (given by injections under the skin), and warfarin and other blood thinners such as apixaban and rivaroxaban (taken orally). If thrombophilia is caused by another disease, such as systemic lupus erythematosus or rheumatoid arthritis, that condition will be treated. For hyperhomocysteinemia, vitamins such as folic acid, vitamin B6, and vitamin B12 may be given.

  • DO remember that oral birth control pills can increase the risk of blood clots. You may have to avoid taking these pills. Check with your health care provider.
  • DO consider screening family members for thrombophilia.
  • DO call your health care provider immediately if you have swelling of one of your arms or legs, shortness of breath, or symptoms of a stroke.
  • DON’T smoke. Tobacco can increase your chances of having a clotting disorder.
  • DON’T forget that lifelong blood-thinning medicine may be needed.

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