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Article

Homozygous familial hypercholesterolemia in childhood: Genotype-phenotype description, established therapies and perspectives.

Atherosclerosis - 1 Apr 2016

Sanna Claudia, Stéphenne Xavier, Revencu Nicole, Smets Françoise, Sassolas Agnes, Di Filippo Mathilde, Descamps Olivier S, Sokal Etienne M

Abstract excerpt

Familial hypercholesterolemia (FH) is a co-dominantly inherited disorder of plasma lipoprotein metabolism. The prevalence of heterozygous FH (HeFH) is between 1/500 and 1/200 whereas that of homozygous form (HoFH) is about 1/1,000,000. Diagnosis is based on cutaneous xanthomas and untreated levels of LDL-cholesterol over 500 mg/dl before 10 years of age. Life expectancy, without treatment, does not exceed 20...

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Source

Identifiers

PMID: 26894473
DOI: 10.1016/j.atherosclerosis.2016.02.009

Genes

PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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