Premature coronary heart disease is a major cause of mortality and morbidity worldwide. A major risk factor for coronary artery disease is hypercholesterolemia, i.e. high serum low-density lipoprotein (LDL)-cholesterol levels. Familial Hypercholesterolemia (FH) is a genetic disorder of LDL metabolism characterized by high levels of LDL-cholesterol and early atherosclerosis development with a prevalence of 0.2-05%. The aim of this study was to see if individuals with premature coronary disease are enriched in familial hypercholesterolemia. A total of 3 mutations were detected in 65 subjects. Among these, 2 mutations were in the LDLR gene and one in the PCSK9 gene. A mutation in LDLR affecting a splicing site (exon 6-intron 6) has not previously been reported. Familial hypercholeterolemia is enriched in individuals with premature coronary heart syndrome with a frequency of approximately 5%. This subset of individuals may benefit of genetic screening for this condition.
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