Antithrombin III deficiency (patient information)

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	Antithrombin III deficiency (patient information);
ICD-9	289.81
OMIM	107300
DiseasesDB	783
MeSH	D020152

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Lakshmi Gopalakrishnan, M.B.B.S.

Overview

Congenital antithrombin III deficiency is a genetic disorder that causes the blood to clot more than normal.

What are the symptoms of Antithrombin III deficiency?

Patients will usually have symptoms of a blood clot, including:

Coughing up blood
Fainting
Shortness of breath and pain when taking deep breaths
Swelling of one leg

What causes Antithrombin III deficiency?

Antithrombin III is a protein in the blood that naturally blocks blood clots from forming. Congenital antithrombin III deficiency is an inherited disease. It occurs when a person receives one abnormal copy of a gene from a parent with the disease.

The abnormal gene leads to low levels of antithrombin III. These low levels of antithrombin III can cause abnormal blood clots (thrombi) that may damage organs.

Often, patients with this condition will have a blood clot at a young age and will have a family member who has also experienced a blood clotting episode. In people with this condition, a blood clot may occur without the common risk factors of pregnancy, lack of movement (due to surgery or trauma), or use of oral birth control pills.

How to know you have a Antithrombin III deficiency?

A physical examination may show:

Abnormal lung sounds
Fast breathing
Fast heart rate
Swollen foot or leg

The diagnosis is made by checking for low levels of antithrombin III in the patient's blood. There are several techniques for checking these levels.

When to seek urgent medical care

See your health care provider if you have symptoms of this condition.

Treatment options

A blood clot is treated with blood thinning medications (also called anticoagulants). How long you need to take these medications depends on how serious the blood clot was and other factors. Discuss this with your health care provider.

Where to find medical care for Antithrombin III deficiency

Directions to Hospitals Treating Antithrombin III deficiency

Prevention

Because this is an inherited condition, there is no way to prevent it. However, once a patient is diagnosed with antithrombin III deficiency, all close family members should be screened.

What to expect (Outlook/Prognosis)

Most patients have a good outcome if they stay on anticoagulant medications.

Possible complications

Blood clots can cause death, especially if they are in the lungs.

Sources

http://www.nlm.nih.gov/medlineplus/ency/article/000558.htm

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