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Gene Therapy of Familial Hypercholesterolemia

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Gene Therapy

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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.

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  1. G. Cichon
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  2. M. Strauss
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  1. Max-Delbrück-Centrum für molekulare Medizin, Robert-Rössle-Strasse 10, D-13122, Berlin-Buch, Germany

    Thomas Blankenstein

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© 1999 Birkhäuser Verlag Basel

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Cichon, G., Strauss, M. (1999). Gene Therapy of Familial Hypercholesterolemia. In: Blankenstein, T. (eds) Gene Therapy. Birkhäuser Basel. https://doi.org/10.1007/978-3-0348-7011-5_11

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  • DOI: https://doi.org/10.1007/978-3-0348-7011-5_11

  • Publisher Name: Birkhäuser Basel

  • Print ISBN: 978-3-0348-7013-9

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