Diagnostic Importance of Mild Hyperhomocysteinaemia in a Child
Population of Parents and Grandparents Suffering from Diseases of the Peripheral or Coronary Arteries
Hyánek J., Stříbrný J.,
Martiníková V., Macháčková L.,
Loučka M., Dubská L.,
Pejznochová H., Táborský L., Cabrnochová I.
Background. A rise of the homocysteine plasma level - mild hyperhomocysteinaemia - is considered an
independent risk factor for the development of vascular damage. It is due to hereditary deficiency of 5,10-methyle-
ne-tetrahydrofolate reductase with accentuation of vitamin deficiency (folic acid, vitamin B 6 and B 12 ). In previous
studies the authors confirmed this fact in the population of patients with aortocoronary or peripheral arterial bypasses.
The assumed autosomal recessive transmission of this deficiency should make it possible to detect carriers of this
metabolic deviation already in childhood. By selective screening of the child population at risk it would thus be
possible to detect affected subjects in time and prevent the development of vascular disease by preventive folate
Methods and Results. In a group of 38 children and grandchildren from risk families where at least one of the
parents or grandparents was operated on account of vascular obliterating disease the total homocysteine plasma level
was examined by the chromatographic method. An increase of total homocystein (8.7 ± 2.7 mmol/l) was found as
compared with children from the non-risk population (5.4 ± 1.8 mmol/l), (p < 0.001). The total homocysteine values
however were dependent on the child’s age and were more marked in children above 12 years of age. In the parental
population mild hyperhomocysteinaemia was present in 38 % of those with aortocoronary bypasses and in 43 % of
those with peripheral arterial bypasses.
Conclusions. The authors found significantly elevated total homocysteine levels in the child population from risk
families with obliterating vascular disease. The total homocysteine level depends on the child’s age and is more
markedly expressed in children above 12 years of age.
mild hyperhomocysteinaemia in children, obliterating vascular disease, selective screening, risk