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[Hereditary deficit of antithrombin III]
Annales De Medecine Interne
|January 1, 1986
Summary
Antithrombin III (AT III) deficiency, a common cause of thrombosis, presents as reduced AT III levels. Diagnosis involves heparin cofactor activity testing, with treatments including AT III concentrates and anticoagulants.
Area of Science:
- Biochemistry
- Hematology
- Genetics
Background:
- Antithrombin III (AT III) is a critical endogenous anticoagulant protein.
- Heterozygous AT III deficiency leads to approximately 50% reduction in plasma concentrations.
- This deficiency is a significant risk factor for thrombotic events.
Observation:
- Clinical manifestations include deep venous thrombosis and pulmonary embolisms, often starting from puberty.
- Both qualitative and quantitative forms of AT III deficiency are observed, with quantitative deficits being more prevalent.
- Diagnosis requires assessing AT III activity in the presence of heparin, its cofactor.
Findings:
- Reduced AT III levels (approximately 50%) characterize heterozygous deficiency.
- A high percentage of patients (40-70%) experience thrombosis from puberty.
- Heparin cofactor activity assay is essential for diagnosing both qualitative and quantitative deficits.
Implications:
- Early diagnosis and management of AT III deficiency are crucial for preventing recurrent thrombotic events.
- Treatment strategies involve AT III concentrates, heparin, and vitamin K antagonists.
- Prophylactic AT III concentrate administration is recommended during high-risk procedures like surgery or delivery.