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[Familial aggregation in 91 families of hypercholesterolemic children]
F Fabiani Romero1, E Gil Ginés, J M Aguilar Diosdado
1Departamento de Bioquímica Clínica, Hospital Virgen Macarena, Sevilla.
Insights
Screening families with hypercholesterolemic children identifies nearly 50% with dyslipidemia. This highlights significant familial aggregation of high cholesterol, emphasizing the need for proactive family-wide screening.
Area of Science:
- Cardiovascular Genetics
- Clinical Biochemistry
- Public Health Screening
Context:
- Hypercholesterolemia in children often indicates a broader familial lipid disorder.
- Understanding familial aggregation is crucial for effective screening strategies.
- Undiagnosed dyslipidemia is prevalent in family members of affected children.
Purpose:
- To assess the effectiveness of a screening strategy for identifying hypercholesterolemia in families with affected children.
- To characterize the familial aggregation patterns of dyslipidemia within these families.
Summary:
- A study of 91 families with hypercholesterolemic children found 10.99% had heterozygous and 89.01% polygenic hypercholesterolemia.
- Diet improved lipid parameters in polygenic cases; heterozygous cases showed significant reductions in cholesterol and apo B.
- Nearly 50% of family members were found to have undiagnosed dyslipidemia, with fathers showing the highest incidence.
Impact:
- The screening strategy effectively diagnoses a high proportion of individuals with hypercholesterolemia within affected families.
- Results underscore the significant familial clustering of dyslipidemia, necessitating comprehensive family screening.
- Early identification and intervention in families can mitigate the long-term cardiovascular risks associated with hypercholesterolemia.
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.
Patients And 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.