Hereditary disease: Hereditary anomalies of homocysteine metabolism are qui
te uncommon and manifest by very high homocysteine levels (> 100 mu mol/l)
and associated homocysteinuria. The risk of premature cardiovascular diseas
e is high. Clinical, biological and epidemiological data accumulated since
the 70s have demonstrated that a moderately elevated serum homocysteine lev
el favors the development of atherothrombosis.
Proven risk: The risk of coronary or cerebral events is 1.5 to 3-fold highe
r for fasting homocysteine levels above 15 mu mol/l. These data show that m
oderately elevated homocysteine level is a powerful cardiovascular risk fac
tor Further information is however needed to ascertain its frequency in the
population and determine whether it is a truly independent risk factor.
Therapeutic options: Most cases of moderately elevated homocysteine can pro
bably be explained by gene-environment interactions. Homocysteine levels ca
n be lowered by oral administration of vitamin cofactors implicated in homo
cystein metabolims: folic acid, vitamin B6, vitamin B12.