Facts and Recommendations about Total Homocysteine Determinations: An Expert Opinion

Author:

Refsum Helga12,Smith A David1,Ueland Per M3,Nexo Ebba4,Clarke Robert5,McPartlin Joseph6,Johnston Carole1,Engbaek Frode4,Schneede Jørn3,McPartlin Catherine6,Scott John M6

Affiliation:

1. Department of Pharmacology, University of Oxford, Oxford OX1 3QT, UK

2. Department of Pharmacology and

3. Locus for Homocysteine and Related Vitamins, University of Bergen, 5021 Bergen, Norway

4. Department of Clinical Biochemistry AKH, Aarhus University Hospital, DK-8000 Aarhus C, Denmark

5. Clinical Trial Service Unit, Radcliffe Infirmary, University of Oxford, Oxford OX2 6HE, UK

6. Departments of Biochemistry and Clinical Medicine, Trinity College, Dublin 2, Ireland

Abstract

AbstractBackground: Measurement of plasma total homocysteine has become common as new methods have been introduced. A wide range of disorders are associated with increased concentrations of total homocysteine. The purpose of this review is to provide an international expert opinion on the practical aspects of total homocysteine determinations in clinical practice and in the research setting and on the relevance of total homocysteine measurements as diagnostic or screening tests in several target populations.Methods: Published data available on Medline were used as the basis for the recommendations. Drafts of the recommendations were critically discussed at meetings over a period of 3 years.Outcome: This review is divided into two sections: (a) determination of homocysteine (methods and their performance, sample collection and handling, biological determinants, reference intervals, within-person variability, and methionine loading test); and (b) risk assessment and disease diagnosis (homocystinuria, folate and cobalamin deficiencies, cardiovascular disease, renal failure, psychiatric disorders and cognitive impairment, pregnancy complications and birth defects, and screening of elderly and newborns). Each of these subsections concludes with a separate series of recommendations to assist the clinician and the research scientist in making informed decisions. The review concludes with a list of unresolved questions.

Publisher

Oxford University Press (OUP)

Subject

Biochemistry (medical),Clinical Biochemistry

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