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Article

Variable phenotype associated with compound LDLR gene mutations in familial hypercholesterolemia patients: Case series and clinical implications.

Medicine - 27 Feb 2026

Mohd Kasim Noor Alicezah, Chua Yung-An, Sheikh Abdul Kadir Siti Hamimah, Al-Khateeb Alyaa, Razman Aimi Zafira, Nazli Sukma Azureen, Kamal Aisyah, Kanchau Johanes Dedi, Lee Yeow Siong, Mohamed Yassin Mohamed Syarif, Qureshi Nadeem, Nawawi Hapizah, Ramli Anis Safura

Abstract excerpt

RATIONALE: Homozygous familial hypercholesterolemia (HoFH) is a rare inherited disorder with an extremely elevated level of low-density lipoprotein (LDL) cholesterol (LDL-C) and accelerated premature coronary artery disease (PCAD). It is primarily caused by a single pathogenic variant of the LDL receptor (LDLR) gene. This report presents 2 rare and unrelated cases of HoFH with compound LDLR mutations. These 2...

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Share to Cholesterol, LDL
Share to Coronary Artery Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Hyperlipoproteinemia Type II

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Share to Receptors, LDL

Source

Open in PubMed Open full text

Identifiers

PMID: 41760042
DOI: 10.1097/MD.0000000000047768
PMCID: PMC12956209

Genes

LDLR
ABCG5
ABCG8
APOB
FH
PCSK9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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