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Article

Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia.

Journal of clinical lipidology - 1 Mar 2026

Yazıcı Havva, Canda Ebru, Erdem Fehime, Yanbolu Ayşe Yüksel, Mammadova Sakina, Alpdoğan Sedef, Altınok Yasemin Atik, Aykut Ayça, Akın Haluk, Karapınar Deniz Yılmaz, Uçar Sema Kalkan, Hegele Robert A, Çoker Mahmut

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is a genetic disorder characterized by impaired clearance of low-density lipoprotein cholesterol (LDL-C), leading to severe hypercholesterolemia and increased risk of premature cardiovascular disease (CVD). Our study aims to describe and compare the clinical, biochemical, and genetic profiles of pediatric patients diagnosed with FH based on LDL-C levels exceeding 400...

Topics

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Adaptor Proteins, Signal Transducing
Cholesterol, LDL
Cohort Studies
Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hypercholesterolemia

Hyperlipoproteinemia Type II

Source

Identifiers

PMID: 41558900
DOI: 10.1016/j.jacl.2025.12.004

Genes

LDLR
LDLRAP1
FH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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