Hyperhomocysteinemia indicates high values of homocysteine in the blood than the norm. Homocysteine is an amino acid present in the body in small quantities. It derives from the metabolism of methionine, an essential amino acid that must be introduced with food (especially meat, eggs, milk and legumes).
In healthy people, homocysteine is quickly transformed into other products thanks to the action of vitamins B6 and B12 and folate. The accumulation of this circulating amino acid can be attributed to various causes, mainly of a genetic or nutritional nature. Hyperhomocysteinemia is now considered a strong and independent risk factor for the development of many serious diseases such as:
- Cardiovascular disease (myocardial infarction, coronary atherosclerosis)
- Cerebrovascular disease (cerebral ischemic stroke)
- Peripheral vascular disease (deep vein thrombosis)
- Alzheimer’s disease
- Osteoporosis
- Complications in pregnancy
- Retinal venous occlusions (RVO)
In pregnancy, menopause and in case of oral contraception, plasma homocysteine levels should be kept under control.
The diagnosis of hyperhomocysteinemia can be made with laboratory tests, e.g. with the measurement of plasma levels of total homocysteinemia on a venous blood sample. Normal homocysteine levels in plasma are between 5 and 13 micromoles per liter (µmol / L).