Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment.

Atherosclerosis - 1 Aug 2012

Raal Frederick J, Santos Raul D

Abstract excerpt

Homozygous familial hypercholesterolemia (HoFH) is an autosomal co-dominant disease resulting from mutations in both copies of the low-density lipoprotein receptor (LDLR) gene. Mutations in 3 other associated genes, proprotein convertase subtilisin/kexin type 9, apolipoprotein B (APOB), and, more rarely, the autosomal recessive hypercholesterolemia adaptor protein, may lead to a similar phenotype with varying...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Anticholesteremic Agents
Share to Blood Component Removal
Share to Cardiovascular Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholesterol, LDL

Share to Hydroxymethylglutaryl-CoA Reductase Inhibitors

Share to Hyperlipoproteinemia Type II

Share to Receptors, LDL

Share to Severity of Illness Index

Source

Identifiers

PMID: 22398274
DOI: 10.1016/j.atherosclerosis.2012.02.019

Genes

LDLR
APOB

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment.PMID 22398274Read ↗

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.Semantic proximity Read ↗

Clinical, diagnostic, and therapeutic aspects of familial hypercholesterolemia.Semantic proximity Read ↗

From physiopathology to treatment of familial hypercholesterolemia: Existing and emerging pharmacotherapies.Semantic proximity Read ↗

Old challenges and new opportunities in the clinical management of heterozygous familial hypercholesterolemia (HeFH): The promises of PCSK9 inhibitors.Semantic proximity Read ↗

Evidence for improved survival with treatment of homozygous familial hypercholesterolemiaSemantic proximity Read ↗

Familial Hypercholesterolemia: A Narrative Review on Diagnosis and Management Strategies for Children and Adolescents.Semantic proximity Read ↗

Guidelines for the management of familial hypercholesterolemia.Semantic proximity Read ↗

Familial Hypercholesterolemia: From Clinical Suspicion to Novel TreatmentsSemantic proximity Read ↗

Homozygous familial hypercholesterolemia and its management.Semantic proximity Read ↗

Lipoprotein Apheresis: An Established Therapeutic Modality for Homozygous Familial Hypercholesterolemia Patients Refractory to PCSK9 Inhibitors: A Case Report and Literature ReviewSemantic proximity Read ↗

The severe hypercholesterolemia phenotype: clinical diagnosis, management, and emerging therapies.Semantic proximity Read ↗

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.