[Familial aggregation in 91 families of hypercholesterolemic children].
OBJECTIVE
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.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Fabiani Romero
F
F
Departamento de Bioquímica Clínica, Hospital Virgen Macarena, Sevilla.
Gil Ginés
E
E
Aguilar Diosdado
J M
JM
Argüelles Martín
F
F
Ramírez Gordillo
I
I
de la Iglesia Huerta
R
R
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006937:Hypercholesterolemia / Q000097:blood / Q000235:genetics*; D008055:Lipids / Q000097:blood; D008297:Male
D008055:Lipids
Estudio de la agregación familiar en 91 familias de niños hipercolesterolémicos.