1st order laboratory parameters – obligatory laboratory tests.
- Homocysteine*
* To prevent the release of homocysteine from the erythrocytes, the serum or plasma must be separated no later than 30-45 minutes after blood collection, which must be fasting.Laboratory parameters 2nd order – depending on the results of the medical history, physical examination, etc. – for differential diagnostic clarification.
- Vitamin B6, B12 and folic acid – acquired hyperhomocysteinemia (= deficiency of vitamin B12, vitamin B6 or folic acid).
- Molecular genetic testing (mutation in the MTHFR gene (methylenetetrahydrofolate reductase gene mutation), with disturbance of C1 metabolism; prevalence/disease frequency 5-20%) – if congenital hyperhomocysteinemia is suspected.
Normal values and pathological values for homocysteine.
- Up to 10 μmol/l in fasting state: no need for action.
- 10 – 12 μmol/: Therapy necessary for patients with increased risk of atherosclerotic disease!
- Slightly elevated values up to 30 μmol/l is usually a vital substance deficiency for vitamins B6, B12 and folic acid.
- At values between 30 and 100 μmol/l, there is a suspicion of heterozygous homocysteinemia – congenital disorder in the metabolism of homocysteine.
- At values above 100 μmol/l, there is a suspicion of homozygous homocysteinemia – more pronounced congenital disorder.
Timely detection of excessively high serum homocysteine levels usually allows the initiation of targeted therapy and thus mitigate the risk of atherosclerosis.
