Study on the risk of patiens with familial hypercholesterolemia by the determination of apolipoprotein E phenotyping

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In familial hypercholelsterolemia (FH), the inter-individual variability in serum total cholesterol (TC) kevels raises a possibility that some still unknown factors, other than LDL receptors, may also contribute to them. Apolipoprotein E (apoE) is a plasma protein involved in cholesterol transport and metaboslim. The allelic variation in the apoE gene (E2/2, E2/3, E2/4, E3/3, E4/3, and E4/4.) is responsible for a proportion of the inter-individual variability in serum TC.With this background in mind, we investigated the association of apoE phenotypes with serum TC levels in FH children.In 269 pediatric patients (hypercholesterolemia, hypothyroidism, malignant diseases, chance proteinuria and/or hematuria, renal diseases), apoE phenotypes were as follows ; E3/3 (192,71.6%), E4/3 (45,16.8%), E3/2 (24,9.0%), E5/3 (5,1.9%), and a very rare variant E7/4.The apoE phenotype of the 143 normal control subjects was E3/3 (100,70.0%) ; E4/3(29,20.4%) ; E3/2 (10,7.0%) ; and E4/2 and E5/3 (4,2.8%). Children with FH had no significant differences in each apoE phenotype distribution as comapared with the normal children. FH children without E4 allele had a tendency to respond cholesterol lowering therapy. In addition, obese children, with at least one E4 allele, had higher serum apoB levels, suggesting higher risk for future coronary atherosclerosis, and nephrotic children with at least one E4 allele were shown to be more steroid resistant.