Hyperhomocysteinemia and thrombophilia

Mojca Božič-Mijovski1

  • 1Department of Vascular Diseases, University Medical Centre, Ljubljana, Slovenia. mojca.bozic@kclj.si

It is now widely accepted that hyperhomocysteinemia (HHC) is a risk factor for thrombophilia. HHC is the result of either impaired enzyme function or a deficiency of vitamin B (folate, B₆, B₁₂), or both, and can be treated with vitamin supplements. Measuring plasma total homocysteine (tHcy) is included in the routine thrombophilia panel in many laboratories, despite having a limited value to the clinician. Many methods are available for tHcy measurements. High-pressure liquid chromatography (HPLC) with fluorescence detection is a widely used method, but is being replaced by more convenient immuno- or enzyme assays. In this paper a general overview on homocysteine is given, with an emphasis on laboratory methods.

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