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Thrombophilia

Thrombophilia is a hypercoagulation disorder in which a person’s body has a tendency to develop excess thrombosis, or blood clots.

When the blood clotting system is working properly, one of the body’s built-in systems regulates the process. Plasma, a part of the blood, has many proteins that either prevent the formation of a clot or break up the clot through the breakdown of fibrin.

Usually, the balance between clot creation and clot disbanding is quite proficient, appropriately responding to an injury and then naturally breaking down the clot after it has served its purpose and is no longer necessary.

Thrombophilia refers to a series of conditions that cause the blood to clot improperly, either clotting when no injury has occurred or clotting that doesn’t dissolve after the injury has been repaired.

The Blood Clotting Process

When a blood vessel is injured, the blood clotting process (also known as the coagulation cascade) is set in motion:

The first blood clotting factors to take action are the platelets (small, round cells in the blood). After helping the blood vessels contract to slow blood flow, the platelets stick to the injured area and bind to each other to reduce bleeding.
A plug is formed that temporarily protects the vessel wall from bleeding more.
At the same time the platelets “plug the hole,” clotting factors, proteins in the blood that aid clotting, start the clotting process.
This eventually forms a tissue adhesive known as fibrin.
At the location of the plug, fibrin invades the injured area, keeping the “plug” (clot) locked in place.
Lastly, scar tissue forms, making new tissue and completing the healing process.

Causes of Thrombophilia

Thrombophilia may be inherited or may be acquired. When thrombophilia is acquired, it is usually symptomatic of some more serious underlying disease or condition.

If any of the following run in your family, you may have inherited thrombophilia:

antithrombin III deficiency (leads to excessive blood clotting)
deficiency of protein C (a clotting factor)
deficiency of protein S (a clotting factor)
Factor V Leiden (resistance to activated protein C, a clotting factor)
homocystinuria (a malfunction of the metabolism of the amino acid methionine).

Some diseases that could put people at risk for acquiring thrombophilia include:

cancers
congenital heart disease
lupus
sickle cell anemia.

A medical professional will be able to assess your risk for thrombophilia based on the type and severity of your condition. Other risk factors for thrombophilia include:

aging
immobilization as a necessary treatment for other medical conditions
obesity
pregnancy
recovering from major surgery
smoking
taking oral contraceptives.

Because some of the above factors are unavoidable (i.e. aging), your doctor can recommend ways to reduce your risk, including suggestions that revolve around making lifestyle changes, eating a healthy diet and regularly exercising.

Any combination of these risk factors will put patients at a higher risk for developing thrombophilia. For instance, a woman who smokes and uses birth control pills would have a higher risk of developing a dangerous clot in her leg than a woman who did neither.

Symptoms and Complications of Thrombophilia

Although clots can form at any age, those with hereditary thrombophilia usually do not have increased risk until early adulthood. If deep vein thrombosis (DVT) {LINK: dvt.morefocus.com}, a condition marked by blood clots that partially or completely block an artery or vein, develops in the leg, patients will experience swelling and tenderness in their leg at the site of the blockage.

If clots are reoccur, symptoms usually include:

redness
severe swelling
discoloration of the skin.

Although clots typically form and cause complications in the legs, they may form in the abdomen, arm and even in veins inside the skull. When blood clots obstruct the artery blood flow, tissues can be damaged or, in the worst cases, destroyed due to lack of oxygen.

Diagnosis of Thrombophilia

After repeated (two or more) episodes of DVT, doctors will generally recommend the following:

blood tests
medical history review
thorough physical examination.

Blood tests determine the condition of the blood's clotting factors, highlighting whether or not sufficient levels of blood proteins and platelets are present to promote healthy clotting. If blood clotting problems persist independent of any underlying condition, the doctor will proceed with further tests to identify whether or not the condition has genetic causes.

Treatment of Thrombophilia

Anticoagulant drugs are generally prescribed for thrombophilia patients. Common anticoagulant medications include heparin and warfarin. Depending on the severity of the cases, some people may have to continue taking this medication for the rest of their lives.

If thrombophilia results from some underlying medical issue, than that issue must also be treated to relieve the symptoms and complications of both conditions.

Thrombophilia and Life Insurance

Individuals with any of the factors that indicate the presence of hereditary thrombophilia may have a problem getting life insurance. If you suspect that you have hereditary thrombophilia, consider getting life insurance before getting testing for this condition.

Prognosis of Thrombophilia

The prognosis for patients with a hypercoagulation disease such as thrombophilia varies, depending on how serious the clots are. If thrombosis is unnoticed or untreated, it could lead to a pulmonary embolism, a potentially fatal condition in which blood clots obstruct the lung’s airways.

If you experience thrombophilia symptoms, see a doctor as soon as possible, as treatment is far more effective if started before complications arise.

Keep in mind that not all thrombophilia cases necessarily cause thrombosis. Dangerous clots are unusual. In fact, about 5 people in 100 will actually get one in the course of a lifetime.

Resources

Answers.com (2007).Hypercoagulation Disorders. Retrieved September 21, 2007, from the Answers.com Web site: http://www.answers.com/topic/hypercoagulation-disorders?cat=health.

Merck (2007). Thrombophilia, Retrieved September 21, 2007, from the Merck Manuals Online Medical Library Web site: http://www.merck.com/mmhe/sec14/ch173/ch173g.html.

University of Michigan (2007). Thrombophilia. Retrieved September 21, 2007, from the University of Michigan Health System Web site: http://www.med.umich.edu/1libr/aha/

umthrombo.htm.