Is antithrombin deficiency autosomal dominant?
Is antithrombin deficiency autosomal dominant?
Hereditary antithrombin deficiency is typically inherited in an autosomal dominant pattern , which means one altered copy of the SERPINC1 gene in each cell is sufficient to cause the disorder.
Is antithrombin 3 deficiency hereditary?
Deficiency of antithrombin (AT; antithrombin III) can be inherited or acquired; it is defined as an AT activity level that is consistently less than 80 percent of normal (or the lower limit of the assay’s reference range). In some patients, AT deficiency can be associated with an increased risk of thromboembolism.
How is hereditary antithrombin deficiency treated?
Once a patient with hereditary antithrombin deficiency develops a clot, anticoagulation therapy (usually Warfarin) is often indicated. The duration of therapy after a first clot, especially in children, is a matter of some controversy, but therapy is generally continued for 3-6 months.
What causes low antithrombin?
Inherited AT deficiency increases the risk for blood clots, acquired AT deficiency often does not. There are 2 major causes of AT deficiency: (a) an inherited deficiency due to a genetic abnormality (mutation), and (b) an acquired deficiency due to some other disease (see table, numbers 1-3).
What happens in antithrombin deficiency?
It occurs when a person receives one abnormal copy of the antithrombin III gene from a parent with the disease. The abnormal gene leads to a low level of the antithrombin III protein. This low level of antithrombin III can cause abnormal blood clots (thrombi) that can block blood flow and damage organs.
What is the danger of having an antithrombin III deficiency?
The abnormal gene leads to a low level of the antithrombin III protein. This low level of antithrombin III can cause abnormal blood clots (thrombi) that can block blood flow and damage organs. People with this condition will often have a blood clot at a young age.
Is thrombophilia an autoimmune disease?
Antiphospholipid antibody syndrome is the most common acquired thrombophilia. It is an autoimmune disorder that may raise your chances of having pregnancy complications and miscarriage.
Can thrombophilia be cured?
Although your provider can’t cure genetic thrombophilia, they can order medicine like blood thinners for you to take for life. This medicine will help you manage your thrombophilia.
