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Congenital antithrombin III deficiency

Congenital antithrombin III deficiency Causes

There are actually two different types of ATIII Deficiency that may be largely due to a number of varying genetic defects that can be directly with associated with conflicting levels of enzymatic activity, enzyme production and chemical stability.

Congenital antithrombin III deficiency Definition

Congenital antithrombin III deficiency is defined as the lack of the potent inhibitor for the coagulation cascade. This is categorized as a non-vitamin K-dependent protease that is known to exhibit the coagulation through lysing factor and thrombin. This type of deficiency is categorized as an autosomal dominant disorder that an infant can inherit through a copy of a defective gene. For severe congenital antithrombin III deficiency, the neonate has inherited 2 types of defective genes and is often easily noted during infancy stage.

Congenital antithrombin III deficiency Diagnosis

Protein C tests, ATIII measurements, as well as protein S deficiencies are among the primary medical tests conducted for infants with congenital antithrombin III deficiency.

Congenital antithrombin III deficiency Symptoms and Signs

There are no physical symptoms that can be associated to congenital antithrombin III deficiency. However, for homozygote deficient neonates, they may display purpura fulminans, which is a type of embolic lesions that develops on the skin. Infants usually appear normal and usually don't have any symptoms unless there are other existing medical conditions.

Congenital antithrombin III deficiency Treatment

Treatment of patients suffering from congenital antithrombin III deficiency depends would largely depend on the clinical setting. For neonates with homozygote deficiency, both the venous and arterial thrombosis is examined, principally if treatment involves vascularly invasive procedures such as umbilical vessel catheterization and extracorporeal membrane oxygenation.

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