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Thrombophilia – Symptoms, Testing, During Pregnancy, Treatment

Written by Dr.Mary

What is Thrombophilia?

This is a condition also referred to as hypercoagulability and it means an increased risk for thrombosis. Thrombophilia can either be acquired or congenital or genetic.


Some medical problems caused by this condition, include:

  • Cardiovascular events such as Myocardial Infarction or MI and angina
  • Peripheral Vascular Disease or PVD
  • Cerebrovascular events such as Transient Ischemic Attack or TIA , and stroke
  • Venous thromboembolic events such as Deep Venous Thrombosis or DVT and Pulmonary Embolism or PE

Cardiovascular and cerebrovascular diseases are dependent highly on the aggregation of platelets while venous thromboembolic diseases are related to abnormalities in the coagulation system.

Thrombophilia Symptoms

The majority of these disorders that are genetic do not start to cause any increased problem with clotting until adulthood however clots may develop at almost any age. Numerous individuals with disorders that are inherited can develop DVT in legs and a deep leg clot can often be trailed by pulmonary embolism. Chronic DVT can also develop as well as clots forming in shallow leg veins known as “superficial thrombophlebitis”. Rarely clots can form in abdominal veins, skull veins as well as arm veins. Antiphospholipid syndrome as well as hyperhomocysteinemia can cause arterial or venous clots. If these clots cause blood flow restrictions in arteries, area tissues that lose blood supply can be destroyed or damaged.

Signs and symptoms include:

  • Leg swelling or swelling along a vein in the leg
  • Leg tenderness or pain
  • Swollen or painful area of leg is warm
  • Redness or discoloration in the leg
  • Problems breathing
  • Pains in chest when deeply breathing
  • Cough mixed with blood
  • Racing heart
  • Breathing rapidly

Thrombophilia Testing

Any individual who develops 2 separate events of a blood clot without any predisposing factors most probably has an inherited disorder. With an inherited thrombophilia there is normally a family history of blood clots. If a healthy young person develops a clotting event for what looks like no apparent reason – can also be an indicator of an inherited disorder.

Blood tests are normally done to measure the activity or amount of different proteins controlling clotting. These tests are needed to identify specific inherited disorders causing thrombophilia and are most accurate when done after a blood clotting event has been treated.

Signs that an individual could have one of the thrombophilia disorders are itemized below. If an individual has one or several of these indications, it is considered necessary to test for “factor V Leiden” or/and the prothrombin mutated gene. These include:

  • History of more than 1 vein clot
  • Clot at an young age, such as before the age of 50
  • Clot developed because of birth control pills, pregnancy, or HRT hormone replacement therapy
  • Unprovoked clot
  • Clot in rare places such as veins of the kidneys, gut, brain or liver

Testing for genetic mutation has almost a 100 percent accuracy rate for finding Prothrombin G20210A mutations as well as factor V Leiden. Each individual has 2 prothrombin genes and 2 factor v genes. But those persons with mutations can have no, one or two mutations in either gene. It is these mutations that increase the risk of blood clot abnormalities, but this also does not mean that an individual will ever have an abnormal clotting event.

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During Pregnancy

Pregnancy can increase the risk factor for clotting that in abnormal. During pregnancy, thrombophilia can further increase the risk for certain complications from clotting problems.

Each pregnant woman is theorized to have a four times higher risk of an abnormal clot when compared to woman who are not pregnant.

Any pregnant woman with one “factor V Leiden” mutation has an eight times higher risk of clotting that is abnormal than a pregnant woman who does not have the mutation. Two of these mutations increase this risk almost 34 times.

In the same way, a woman who is pregnant with 1 prothrombin mutation has about a seven times higher chance of clotting than is abnormal clotting than a woman who is pregnant without this mutation. The risk of 2 mutations makes the chances rise much higher.

Some studies have shown that thrombophilia increases the risk of certain types of pregnancy complications. These may include:

  • Preeclampsia – blood pressure is elevated as well as urine protein
  • Abruption of placenta – placenta tears away from the uterus, causing bleeding and lack of supply of blood to the pregnancy
  • Pregnancy loss that is recurrent – defined as 3 or more pregnancy losses.
  • Pregnancy loss late – stillbirth normally in 3rd trimester
  • UGR or intrauterine growth restriction – baby is smaller than expected
  • It is also believed that thrombophilia can increase the risk of blood clots in the placenta or afterbirth. The placenta is where nutrients as well as oxygen are exchanged between the baby and mother. Any clots could block the flow of substances as well as other complications.

Thrombophilia Treatment

Anticoagulants are used to lower the ability of the blood to clot. They do not dissolve already existing clots but that normally happens over time. The 2 more common anti-coagulants are:

  • Heparin
  • Warfarin

Heparin is usually administered by injection or thru IV. It works quickly, so is often the 1st anti-coagulant used. There are several different types of heparin, such as low molecular weight heparin or unfractionated and are used for different reasons.

Warfarin, sold under the brand name of Coumadin® is given oral by pill. Warfarin will take several days to work completely therefore it often is started while the individual is still on heparin. And, it is normally preferred for extended treatment following a clotting event. Warfarin is not normally given in pregnancy due to the increase chance of some birth defects.

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