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Article

Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease.

Journal of clinical lipidology - 1 Jan 2000

Sjouke Barbara, Defesche Joep C, Hartgers Merel L, Wiegman Albert, Roeters van Lennep Jeanine E, Kastelein John J, Hovingh G Kees

Abstract excerpt

INTRODUCTION: Autosomal dominant hypercholesterolemia (ADH), characterized by high-plasma low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease (CVD) risk, is caused by mutations in LDLR, APOB, and/or PCSK9. OBJECTIVE: To describe the clinical characteristics of "double-heterozygous carriers," with 2 mutations in 2 different ADH causing genes, that is, LDLR and APOB or LDLR and...

Read the complete abstract on PubMed

Topics

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Share to Aged, 80 and over
Share to Apolipoproteins B

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiovascular Diseases

Share to Cholesterol, LDL

Share to Heterozygote

Share to Hyperlipoproteinemia Type II

Share to Proprotein Convertase 9

Share to Receptors, LDL

Source

Identifiers

PMID: 27919364
DOI: 10.1016/j.jacl.2016.09.003

Genes

LDLR
APOB
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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