Hyperhomocysteinemia E72.-

An elevated homocysteine level is found in about 5% of the normal population. It was found that this finding can be detected in 10% of thrombosis patients. It is suspected that hyperhomocysteinemia is a risk factor for thrombosis.

Homocysteine is a metabolide in the breakdown of methionine, which is metabolized via vitamin B12 and methylenetetrahydrofolic acid-dependent methionine synthetase. A gene mutation of methylenetetrahydrofolic acid reductase by a mutation in GC 677 T leads to increased homocysteine formation. The normal level is 5.5 mg/l. Compared to other risk factors for thrombosis formation, a genetic mutation of methylenetetrahydrofolic acid is comparatively mild. Detection is by immunoassay or gas chromatography.

HA Neumann (2014) The coagulation system. ABW-Wissenschaftsverlag GmbH Berlin S. 232f.