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[Genetic polymorphism and risk of thromboses]
1Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, Fukuoka 812-8582.
Rinsho Byori. the Japanese Journal of Clinical Pathology
|April 20, 2001
Summary
A comprehensive thrombophilia analysis identified low protein S (PS) and protein C (PC) activity in 40% of patients. Genetic factors and polymorphisms also contribute to thrombosis risk.
Area of Science:
- Hematology
- Genetics
- Pathogenesis
Context:
- Thrombophilia, characterized by an increased tendency to form blood clots, poses significant health risks.
- Accurate diagnosis and understanding of thrombophilia pathogenesis are crucial for effective patient management.
- Previous diagnostic approaches may have missed certain contributing factors to thrombotic events.
Purpose:
- To establish a systematic pathogenetic analysis for thrombophilia.
- To identify and confirm the underlying causes of thrombophilia in a large patient cohort.
- To investigate the role of genetic abnormalities and polymorphisms in thrombophilia.
Summary:
- A comprehensive analysis of thrombophilia was performed on 485 patients using functional and immunological assays for factors including antithrombin III (AT III), protein C (PC), and protein S (PS).
- Low activities of PS (46%) and PC (18%) were detected in 40% of patients, with 24 genetic abnormalities confirmed.
- Genetic polymorphisms, such as PS Tokushima and factor XII 46C allele, were identified as additional risk factors for thrombosis.
Impact:
- This systematic approach successfully identified the pathogenesis in 164 cases that might have otherwise been missed.
- The findings highlight the importance of considering both deficiencies and genetic variations in thrombophilia assessment.
- Enhanced understanding of thrombophilia contributes to improved diagnostic strategies and personalized risk assessment.