| Summary: | Abstract To facilitate the diagnosis of hypercholesterolemia, we wanted to create a simple and rapid method for diagnosing familial hypercholesterolemia in a homogenous population. The PCR method for the FH-Helsinki mutation detected 25 FH-Helsinki positive patients, two of whom had no clinical signs of FH, but had a positive family history for the disease. The method is exceptionally useful in Northern Finland, where 62% of the FH patients carry the FH-Helsinki mutation. The role of polymorphisms and mutations of the apo B particle as etiologic factors of hypercholesterolemia was studied in a population of moderately hypercholesterolemic individuals. The catabolism of the patients’ own LDL was compared to that of a healthy and normocholesterolemic donor, and no major differences were observed. However, the presence of the XbaI cutting site was associated with elevated cholesterol values and a slightly lowered LDL catabolic rate. Patients homozygous for the EcoRI cutting site also had a slow LDL catabolic rate and slightly elevated cholesterol values. The MspI and Ins/del polymorphisms of the apo B particle were not associated with variations in LDL catabolism. The e 4 allele of apolipoprotein E was slightly more frequent in our hypercholesterolemic population than in the average population. The lipid values did not differ significantly between the apo E phenotypes in moderately hypercholesterolemic individuals, nor could we detect any differences in the catabolic rates of their LDL according to the apo E phenotype (individuals with the phenotype apo E 2/2 were excluded from the study). In our population of CAD patients, the frequency of the e 4 allele was lower than in CAD populations from Southern Finland (0.23 vs. 0.32), suggesting that apo E 4 is not so strongly associated with coronary disease in Northern Finland as in other populations. The E 4 phenotype was associated with slightly smaller LDL cholesterol reductions by colestipol and lovastatin treatment compared with patients with the phenotype 2/3. The ...
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