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[Hereditary deficit of antithrombin III]
Insights
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.
Abstract:
Antithrombin III is a well-known coagulation inhibitor. Its heterozygous deficit is demonstrated through concentrations reduced about by 50 p. 100. On a clinical level, about 40 p. 100 to 70 p. 100 patients present with deep venous thrombosis (visceral on the whole) and pulmonary embolisms from puberty. There are both qualitative and quantitative deficits, these appearing to be mostly frequent. Only calculation of activity in the presence of heparin (co-factor of heparin) enables to diagnose these two types of deficits. Treatment performed includes both AT III concentrated agents and heparin in severe cases. Recurrences prevention is performed thanks to antivitamins K. If surgical treatment or delivery, a prevention of any incidents thanks to a vicarious therapy (AT III concentrated agent) is to be used.