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Hereditary Antithrombin Deficiency is a genetic disorder leading to poorly functioning or diminished levels of antithrombin, a condition that can lead to excessive clotting. Historically called ATIII Deficiency, AT Deficiency is estimated to affect over 200,000 people in Europe, Canada and the United States. It is one of a group of related conditions called thrombophilia.
Antithrombin is an important anticoagulant in human serum. It regulates
thrombin, a blood protein that plays a key role in controlling clot formation. Patients with Hereditary Antithrombin Deficiency, or HD, can have either
Type I or Type II deficiency. Type I is a quantitative deficiency characterized
by low levels of antithrombin. Type II is a qualitative deficiency characterized
by the presence of antithrombin variants which do not function properly. A
survey of the literature suggests that Type I HD patients are generally more
prone to venous thromboembolism than Type II patients.
Individuals with Hereditary Antithrombin Deficiency are at risk for blood
clots, organ damage or even death. Sometimes the clots can form
spontaneously, putting an individual at sudden and unexpected risk. Other
research suggests that HD may contribute to fetal loss. HD patients are
perhaps at greatest risk during events which are independently associated
with a probability of thrombosis, such as surgery and delivery.
We invite you to browse through the site, learn about new developments
in the field, hear from patients and physicians, and post your own questions and comments.
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HAVE YOU BEEN DIAGNOSED?
Read the basics about HD diagnosis, and read what questions patients ask.
Learn more.
WHAT IS RECOMBINANT ANTITHROMBIN?
Recombinant Human Antithrombin, rhAT, is a new investigational agent and a therapeutic option for some patients with HD.
Learn more.
The National Alliance for Thrombosis and Thrombophilia (NATT)
Antithrombin Deficiency Brochure
Click Here to download
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