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Hyperhomocyst(e)inemia and Thrombophilia
Nigel S Key1, Ronald C McGlennen
1Department of Medicine, Division of Hematology, Oncology, and Transplantation, University of Minnesota, Minneapolis 55455, USA. keyxx001@umn.edu
Archives of Pathology & Laboratory Medicine
|November 8, 2002
Summary
Elevated total plasma homocysteine (hyperhomocysteinemia) has no established causal role in thrombosis. Direct homocysteine testing is preferred over genetic markers for diagnosis and management.
Area of Science:
- Clinical Pathology
- Hematology
- Thrombosis Research
Background:
- Elevated total plasma homocysteine, or hyperhomocysteinemia, is a condition associated with various health issues.
- Its precise role in the pathogenesis of venous and arterial thrombosis remains a subject of ongoing investigation.
Purpose of the Study:
- To review the existing medical literature on hyperhomocysteinemia and thrombosis.
- To establish a consensus opinion among experts regarding the role of hyperhomocysteinemia in thrombotic events.
Main Methods:
- A comprehensive review of the medical literature, focusing on studies from the past decade.
- A conference (College of American Pathologists Conference XXXVI) was convened for expert discussion and consensus building.
- Recommendations were finalized based on a 70% expert consensus.
Main Results:
- Consensus was achieved on nine recommendations covering diagnosis, testing methods, and clinical management of hyperhomocysteinemia.
- A key finding was the lack of established evidence for a causal relationship between hyperhomocysteinemia and thrombosis.
- Direct measurement of homocysteine levels is deemed sensitive, reliable, and more informative than genetic marker genotyping.
Conclusions:
- Hyperhomocysteinemia's causal role in venous or arterial thrombosis is not yet established.
- Direct homocysteine assays offer superior diagnostic information compared to genetic testing.
- Standardized recommendations for diagnosis, testing, and management have been developed.