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Familial hypercholesterolaemia 

Familial hypercholesterolaemia
Chapter:
Familial hypercholesterolaemia
DOI:
10.1093/med/9780199559688.003.0129
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date: 14 October 2019

Familial hypercholesterolaemia 296

Treatment of familial hypercholesteroaemia 298

FH is an inborn error of metabolism that leads to accumulation of LDL-C particles in the blood and premature coronary artery atherosclerosis. In most cases it is caused by defects in the LDL receptor (LDL-R) and a reduced number of functional receptors on the surface of the liver that results in a reduce clearance of LDL-C and thus its accumulation in the plasma. The prevalence of heterozygous FH is 1 in 500 of the population for people of European descent. In heterozygous FH serum LDL-C (and total cholesterol) values are approximately double the usual values. The slower clearance of LDL-C particles also leads to a reduction in LDL particle triglyceride content such that serum total triglyceride values for individuals with FH are usually within the normal range....

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