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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
Insights
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.
Objective:
To review the role of an elevated total plasma homocysteine level (hyperhomocyst[e]inemia) in patients with venous or arterial thrombosis, as reflected by the medical literature and the consensus opinion of recognized experts in the field.
Data Sources:
Review of the medical literature, primarily from the last 10 years.
Data Extraction And Synthesis:
The literature was reviewed to identify key points defining the condition, and the clinical study design of each article was examined. A draft manuscript was prepared and circulated prior to the conference to every participant in the College of American Pathologists Conference XXXVI: Diagnostic Issues in Thrombophilia. Each of the key points and associated recommendations was then presented for discussion at the conference. Recommendations were accepted if a consensus of the 70% of the experts attending the conference was reached. The results of the discussion were used to revise the manuscript into its final form.
Conclusions:
Consensus was reached on 9 recommendations concerning the criteria for diagnosis, the method of testing, and the approach for clinical management. A major point of consensus was that no causal role of hyperhomocyst(e)inemia in venous or arterial thrombosis is yet established. Testing methods used to measure homocysteine directly are sensitive and reliable, and provide more information than does genotyping for markers linked to abnormal plasma homocysteine.
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