What is Thrombophilia?
Thrombophilia (also known as hypercoagulability) is a predisposition to the development of blood clots. Thrombophilia can be either inherited or acquired during one’s lifetime. Conditions leading to thrombophilia that can be acquired or developed during one’s lifetime include abnormalities of the blood such as too many red blood cells (polycythemia) or too many platelets (thrombocytosis or thrombocythemia), placement of a mechanical heart valve, or the development of abnormal proteins or antibodies.
Most often, blood clotting is a good thing — a necessary response, in fact, to keep your body from bleeding excessively when you’re injured. But clotting, or coagulation as it’s also called, can be dangerous when clots form when they aren’t supposed to. That’s the case with deep vein thrombosis (DVT), blood clots that form in a vein deep inside the body, usually the legs.
Particularly at risk for this are people with a blood clot disorder called thrombophilia, also known as hypercoagulability. This condition makes someone more likely to develop abnormal blood clots which can be life-threatening. Thrombophilia increases DVT risk. And, left untreated, blood clots can break off, start moving through the blood, and block blood flow to a major organ, possibly causing severe damage or death. That’s why proper thrombophilia diagnosis is so important.
Most thrombophilias are genetic, meaning they’re inherited from one or both parents, There are also risk factors for blood clots that are not genetic, such as taking oral contraceptives, being immobilized due to recent surgery, or cancer. But most are inherited.Thrombophilia - Thrombosis, Deep Vein Thrombosis Click To Tweet
Thrombophilia in Pregnancy
Pregnancy is a hypercoagulable state. The field of thrombophilia; the tendency to thrombosis, has been developed rapidly and has been linked to many aspects of pregnancy. It is recently that severe pregnancy complications such as severe preeclampsia intrauterine growth retardation abruptio placentae and stillbirth have been shown to be associated with thrombophilia.
Thrombophilia is diagnosed through blood testing. These tests can identify the condition, but they can’t always determine the cause.
If you or someone in your family has thrombophilia, genetic testing may be able to identify other family members with the same condition. When considering genetic testing, you should ask your doctor if the results would have any impact on treatment decisions.
Genetic testing for thrombophilia should only be done with the guidance of a qualified genetic counselor.
Thrombophilia Screening should be done as soon as any of the risk factors are identified. It is particularly important to screen before a patient is exposed to a known precipitating factor such as pregnancy or the oral contraceptive.
Thrombophilia screening should not be done during the acute phase after the patient presents with a clot. Patients should be tested after the acute event and after any anticoagulation therapy (1-month post warfarin therapy).
If it is not possible to carry out the thrombophilia screen after warfarin therapy or when patients are on lifelong warfarin a limited number of tests are available but it is important to inform the laboratory of the patient’s therapy. During warfarin therapy, it is not possible to interpret Protein C and S results as these are both vitamin K dependant proteins and are reduced during the treatment.
Thrombophilia Profile Blood Test
- Antithrombin III activity
- Homocysteine level
- Ptt & mixing studies
- Lupus anticoagulant
- Protein c antigen
- Free protein s
- Apc-activated protein c resistance
- Phospholipid antibody Igg & IgM
- Protein c activity
- Protein s activity
- Antithrombin iii antigen
- Anti-cardiolipin antibody
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