Antithrombin III deficiency

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Antithrombin III deficiency
Other names	ATIII deficiency
Specialty	Hematology

Antithrombin III deficiency (abbreviated ATIII deficiency) is a deficiency of antithrombin III. This deficiency may be inherited or acquired.^[1] It is a rare hereditary disorder that generally comes to light when a patient suffers recurrent venous thrombosis and pulmonary embolism, and repetitive intrauterine fetal death (IUFD).^[2] Hereditary antithrombin deficiency results in a state of increased coagulation which may lead to venous thrombosis.^[3] Inheritance is usually autosomal dominant, though a few recessive cases have been noted.^[4] The disorder was first described by Egeberg in 1965.^[5] The causes of acquired antithrombin deficiency are easier to find than the hereditary deficiency.^[3]

The prevalence of antithrombin deficiency is estimated at ~0.02 to 0.2% of the general population, and 1-5% of patients with venous thromboembolism.^[6] There is an elevated risk of thrombosis, whereby 50% patients with AT deficiency were found to have venous thromboembolism by age 50.^[6]