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- W41649675 abstract "Familial hypercholesterolemia (FH) is one of the most common autosomal dominant diseases which affects about 1 in 500 individuals, in the heterozygous form. The reason for elevated serum cholesterol levels in these patients is a defect of the low density lipoprotein (LDL) receptor gene. The absence of functional LDL-receptors in the liver prevents clearance of LDL from the circulation, leaving serum cholesterol levels constantly elevated. In heterozygous carriers total serum cholesterol ranges between 260–500 mg/100 ml (2–4 fold increased LDL-cholesterol compared with normal patients). Patients are at high risk for coronary artery disease (CAD) and about 85% up to the age of 60 experience myocardial infarction. Heterozygous FH patients account for about 5% in the whole group of myocardial infarctions. There are several sites for pharmacological intervention in the heterozygous group but only a few therapeutic options are available for the treatment of homozygous FH, which occurs only once in a million individuals. These patients suffer from serum cholesterol levels between 500–1200 mg/100 ml (6–8 fold increased LDL-cholesterol). They develop severe atherosclerosis, experience myocardial infarctions during childhood and have a markedly reduced life expectancy." @default.
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- W41649675 date "1999-01-01" @default.
- W41649675 modified "2023-09-25" @default.
- W41649675 title "Gene Therapy of Familial Hypercholesterolemia" @default.
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- W41649675 doi "https://doi.org/10.1007/978-3-0348-7011-5_11" @default.
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