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Antithrombin III deficiency: a report of 14 cases belonging to three different kindreds
Insights
Hereditary antithrombin III (AT III) deficiency, inherited in an autosomal dominant pattern, was identified in three families. Many affected individuals experienced thrombotic events, highlighting the clinical significance of this genetic condition.
Area of Science:
- Genetics
- Hematology
- Medical Science
Background:
- Hereditary antithrombin III (AT III) deficiency is a rare genetic disorder.
- Understanding its inheritance patterns and clinical manifestations is crucial for patient management.
Observation:
- A study investigated 14 subjects from three families with hereditary AT III deficiency.
- No consanguinity was reported in the investigated families.
- The defect followed an autosomal dominant inheritance pattern.
Findings:
- Seven affected subjects experienced thrombotic episodes, including deep vein thrombosis, splanchnic thrombosis, and pulmonary embolization.
- Routine clotting tests were normal.
- All subjects showed decreased AT III activity and antigen levels.
- Crossed immunoelectrophoresis revealed reduced AT III peaks in plasma and serum.
Implications:
- Hereditary AT III deficiency is a significant risk factor for thrombosis.
- Early diagnosis and management are essential for individuals with this condition.
- Further research can elucidate the precise molecular mechanisms and long-term outcomes.
Abstract:
A hereditary deficiency of AT III is described in 14 subjects belonging to three different kindreds. There is no consanguineity in any of the families investigated. The pattern of inheritance of defect appears autosomal dominant. Seven of the affected subjects presented thrombotic episodes (deep vein thrombosis, splanchnic thrombosis, pulmonary embolization). The main laboratory features were: normal routine clotting tests, decreased AT III activity in all assay systems and concomitantly reduced AT III antigen levels. Crossed immunoelectrophoresis showed only reduced peaks with respect to normal in both plasma and serum. No correlation was found between age of patients and AT III levels.