Congenital antithrombin III deficiency

Congenital antithrombin III deficiency is a rare genetic disorder characterized by an increased risk of blood clots due to a deficiency of antithrombin III, a protein that inhibits blood coagulation. This condition is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the disorder to each of their offspring.

Causes

The cause of congenital antithrombin III deficiency is a mutation in the SERPINC1 gene, which provides instructions for producing antithrombin III. This mutation results in a decrease in the amount or activity of this protein, leading to an increased risk of developing abnormal blood clots.

Symptoms

The symptoms of congenital antithrombin III deficiency can vary greatly among affected individuals. Some people may experience no symptoms, while others may develop severe and life-threatening blood clots. The most common symptoms include deep vein thrombosis, pulmonary embolism, and in rare cases, stroke or heart attack.

Diagnosis

Diagnosis of congenital antithrombin III deficiency is based on a combination of clinical findings, family history, and specialized laboratory tests that measure the amount and activity of antithrombin III in the blood.

Treatment

Treatment for congenital antithrombin III deficiency is aimed at preventing the formation of blood clots. This may include the use of anticoagulant medications, such as heparin or warfarin, and in some cases, antithrombin III replacement therapy.

Prognosis

The prognosis for individuals with congenital antithrombin III deficiency varies depending on the severity of the condition and the individual's response to treatment. With appropriate management, most individuals can lead normal lives.

See also

• Thrombophilia
• Coagulation
• Genetic disorder