Diagnostic Importance of Mild Hyperhomocysteinaemia in a ChildPopulation of Parents and Grandparents Suffering from Diseases of the Peripheral or Coronary Arteries

Overview

Background.
A rise of the homocysteine plasma level - mild hyperhomocysteinaemia - is considered anindependent 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 previousstudies 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 thismetabolic deviation already in childhood. By selective screening of the child population at risk it would thus bepossible to detect affected subjects in time and prevent the development of vascular disease by preventive folateadministration.Methods and Results. In a group of 38 children and grandchildren from risk families where at least one of theparents or grandparents was operated on account of vascular obliterating disease the total homocysteine plasma levelwas examined by the chromatographic method. An increase of total homocystein (8.7 ± 2.7 mmol/l) was found ascompared with children from the non-risk population (5.4 ± 1.8 mmol/l), (p < 0.001). The total homocysteine valueshowever were dependent on the child’s age and were more marked in children above 12 years of age. In the parentalpopulation mild hyperhomocysteinaemia was present in 38 % of those with aortocoronary bypasses and in 43 % ofthose with peripheral arterial bypasses.Conclusions. The authors found significantly elevated total homocysteine levels in the child population from riskfamilies with obliterating vascular disease. The total homocysteine level depends on the child’s age and is moremarkedly expressed in children above 12 years of age.

Key words:
mild hyperhomocysteinaemia in children, obliterating vascular disease, selective screening, riskpopulation.