Familial Hypercholesterolemia—Epidemiology, Diagnosis, and Screening

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• 作者：Siddharth Singh ; Vera Bittner
• 关键词：Familial hypercholesterolemia ; Diagnosis and screening
• 刊名：Current Atherosclerosis Reports
• 出版年：2015
• 出版时间：February 2015
• 年：2015
• 卷：17
• 期：2
• 全文大小：196 KB
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  15. Sjouke B, Kusters DM, Kindt I, Besseling J, Defesche JC, Sijbrands EJ, Roeters van Lennep JE, Stalenhoef AF, Wiegman A, de Graaf J, Fouchier SW, Kastelein JJ, Hovingh GK. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome. Eur Heart J. 2014 Feb 28. / Authors provide recent estimate of homozygous FH from the Netherlands (1 in 300,000). Of 104, 682 individuals who underwent genetic testing, 49 had homozygous FH-20:20 were true homozygotes, 25 compound heterozygotes, and 4 homozygous for Apo B.
• 刊物主题：Angiology; Cardiology;
• 出版者：Springer US
• ISSN：1534-6242

文摘

Familial hypercholesterolemia is among the commonest inherited metabolic disorders and is characterized by severely elevated LDL cholesterol levels. Mutations in four genes have been noted in patients with familial hypercholesterolemia (FH): LDL receptor (most common), apolipoprotein B (Apo B), proprotein convertase subtilin/kexin 9 (PCSK9), and low-density lipoprotein receptor adaptor protein (LDLRAP). In most cases, inheritance is autosomal co-dominant with homozygotes having double the LDL cholesterol levels of heterozygotes. Autosomal recessive inheritance is rare. The prevalence of the heterozygous state has been estimated at 1 in 200 to 1 in 500 and of the homozygous state from 1 in 160,000 to 1 in 1,000, 000. Three formal diagnostic criteria have been proposed to diagnose FH in practice-MedPed, Simon Broome, and Dutch Lipid Clinic Network. The role of genetic testing and cascade screening among families is discussed in this review.