Familial aggregation in 91 families of hypercholesterolemic children
Fabiani Romero, F.; Gil Ginés, E.; Aguilar Diosdado, J.M.; Argüelles Martín, F.; Ramírez Gordillo, I.; de la Iglesia Huerta, R.
Anales Espanoles de Pediatria 47(5): 483-488
1997
ISSN/ISBN: 0302-4342 PMID: 9586288 Document Number: 472280
The aim of this study was to evaluate both the importance of the screening strategy and the familial aggregation characteristics of families with hypercholesterolemic children. Ninety-one families (369 subjects) with one hypercholesterolemic child were studied. In addition to clinical and general biochemical evaluation, lipids including apo A-I and B-100 were examined. LDL was quantified under ultracentrifugation. Among the 91 children studied, 10 (10.99%) suffered heterozygous hypercholesterolemia, while 81 (89.01%) suffered polygenic hypercholesterolemia. Following a diet, polygenic children exhibited normal lipid parameters. In heterozygous children a decrease of 19% for total cholesterol, 19.9% for LDL-cholesterol and 16.3% for apo B were observed. When starting the study, 77.5% of the family members thought that they had normal serum lipid values. At the end of the study it was confirmed that only 28% were really normolipemic, indicating that 49.4% of the individual did not know that they were suffering dyslipemia. The study also showed that fathers exhibited the highest incidence of hypercholesterolemia (80.2%) followed by brothers (65.6%) and mothers (61.5%). Therefore, 69.4% of the individuals studied exhibited dyslipemia. The screening strategy allows one to diagnose a high percentage (almost 50%) of individuals suffering hypercholesterolemia in families with a child previously diagnosed of this pathology. Moreover, in these families there is a high degree of familiar aggregation of dyslipemia.