
Risk Factors
Hereditary AT deficiency is autosomal dominant; each offspring has a 50% chance of inheriting the condition.1,2
Men and women are affected equally.1,2
The figure below represents a hypothetical family tree.
Dominant Inheritance Can Affect Generations

Who is Affected?
- Hereditary AT deficiency affects 1 in 2000 to 5000 individuals3,4
- An incidence of 1 in 5000 would suggest that there are at least 60,000 affected people in the United States5
- Hereditary AT deficiency was the first hereditary thrombophilia associated with increased risk of thromboembolism1,6
- It was originally identified in 1965 by Egeberg, who described members of a Norwegian family, many of whom had plasma AT levels of approximately 50% of normal (as determined by AT activity) and some of whom experienced recurrent thromboembolism2,6
References:
- Franchini M, Veneri D, Salvagno GL, Manzato F, Lippi G. Inherited thrombophilia. Crit Rev Clin Lab Sci. 2006;43(3):249-290.
- Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb
Diath Haemorrh.
1965;13:516-530. - Bucur SZ, Levy JH, Despotis GJ, Spiess BD, Hillyer CD. Use of antithrombin III concentrate in congenital and acquired deficiency states. Transfusion. 1998;38(5):481-498.
- Rosenberg RD. Actions and interactions of antithrombin and heparin. N Engl J Med. 1975;292(3):146-151.
- US Census Bureau, Population Division. US and World Population Clocks – POPClocks. http://www.census.gov/main/www/popclock.html. Revised November 22, 2006. Updated January 31, 2008. Accessed April 9, 2009.
- Kottke-Marchant K, Duncan JA. Antithrombin deficiency: issues in laboratory diagnosis. Arch Pathol Lab Med. 2002;126(11)1326-1336.
