Thrombophilia

Thrombophilia






Thrombophilia is the process of abnormal blood coagulation that fairly increases Blood Clots in the blood vessels. Very often it occurs on people who have history of thrombosis. In this disorder, the blood will have an increased tendency to form more number of clots. Blood clots (in medical terms called “thromboses”) can block free flow of blood causing various issues like pulmonary embolism and vein thrombosis. This disorder is normally mild and many people who suffer from thrombophilia will not have any serious problem.

Causes :

The body’s natural process of blood clotting is altered in thrombophilia. Whenever there is an injury to the blood vessel, the blood platelets will act fast to create blood clotting thus preventing loss of blood and this process is called heamostasis. Number of factors and chemicals are involved in the above process of blood clotting.

Thrombophilia is likely to be congenital (by birth) and is inherited from parents. It can also be of the type called acquired thrombophilia wherein the person will get this problem due to underlying medical issues. If the coagulant factors and chemicals are overactive, it can also trigger the process of blood clot.

Acquired thrombophilia is caused due to antiphospholipd syndrome developed by lupus anticoagulant and anti cardiolipin coagulant. All these are categorized under autoimmune disorder wherein body’s natural defense system will attack the healthy cells and antibodies. Hemolytic Anemia can also trigger this disorder due to loss of red blood cells. Sickle cell disease in which there is mutation of hemoglobin can cause this problem. Cancer (metastatic) increases the risk of thrombophilia and similarly nephritic syndrome (protein discharge into the urine due to kidney problem) can also cause this disease.

Symptoms :

There would be excess of pain and inflammation on the affected part. Very often, thrombophilia will affect the legs causing venous thrombosis. Sometimes, the developed blood clot may move forward to the heart or lung causing complicated situation like pulmonary embolus PE. If this happens, there may be symptoms like shortness of breath, intense chest pain and increased heartbeat. If the person is not given any immediate treatment, he may get Heart Attack or he may collapse. There are rare cases of this disorder that can cause blood clotting in the liver, kidney or even brain. Blood clotting in the liver is known as Budd Chiari syndrome. It would also cause intense pain in the abdomen.

Arterial thrombosis is the process of development of blood clot in the arteries and if it occurs on veins it is called Deep Vein Thrombosis. In rare cases, thrombophilia can cause heart attack, Stroke and Miscarriage. It may affect the normal development of the infant on pregnant women. Thrombosis can cause several complications in pregnant women like stillbirth child and abruption of placenta.

Treatment :

Your doctor will first identify how far the disease is serious and risky, before starting the course of treatment. He would consider various factors like your age, health condition, history of illness etc. Low dosage of aspirin is given to prevent blood clots that may cause miscarriage during pregnancy.

Anticoagulant therapy is given to reduce the thickness of blood which will alter the chemicals that cause the blood to clot. It starts slow down the activity of such chemicals thus reducing blood clot. Venous thrombosis is treated with this method. Anticoagulants like warfarin and heparin is prescribed for many people with thrombophilia.

Thrombophilia – Symptoms, Testing, During Pregnancy, Treatment

Thrombophilia – Symptoms, Testing, During Pregnancy, Treatment

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 Phlebitis">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:

• Eclampsia">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.