Related Experiment Video
Updated: Aug 16, 2026
A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
The diagnosis and management of familial hypercholesterolaemia
1Lipidology Division of Internal Medicine & MRC Cape Heart Group, Groote Schuur Hospital and University of Cape Town Health Science Faculty, Cape Town, South Africa.
Insights
Familial hypercholesterolaemia causes high low-density lipoprotein cholesterol, leading to atherosclerosis. Early detection and statin therapy are crucial for managing this genetic disorder and reducing cardiovascular risks.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Metabolic Disorders
Background:
- Familial hypercholesterolaemia (FH) is a genetic disorder characterized by extremely high levels of low-density lipoprotein (LDL) cholesterol.
- This condition significantly increases the risk of premature atherosclerosis and cardiovascular disease.
- Tendinous cholesterol deposition is a hallmark clinical feature in many affected individuals.
Purpose of the Study:
- To provide a concise overview of familial hypercholesterolaemia, integrating current research with clinical insights.
- To discuss the genetic basis, clinical presentation, and management strategies for FH.
- To highlight recent advancements in diagnosis and treatment, and future therapeutic directions.
Main Methods:
- This review synthesizes existing literature and clinical experience.
- It examines the genetic underpinnings, including mutations in LDL receptor, apolipoprotein B100, and PCSK9 genes.
- Current therapeutic interventions, such as statins, and diagnostic advancements are discussed.
Main Results:
- Multiple genetic mutations, primarily affecting the LDL receptor, cause the FH phenotype.
- Statins have demonstrated efficacy in lowering LDL cholesterol, promoting atherosclerotic regression, and reducing mortality.
- Advanced imaging techniques offer non-invasive assessment of disease impact.
Conclusions:
- Familial hypercholesterolaemia is an underdiagnosed but treatable condition requiring a high index of suspicion.
- Effective management involves lipid-lowering therapies like statins to mitigate cardiovascular risk.
- Future prospects include genetic therapies and novel approaches to modulate atherosclerosis.
Abstract:
Familial hypercholesterolaemia is a clinical entity comprising high concentrations of low density lipoproteins, tendinous deposition of cholesterol in a large proportion of affected subjects, and a propensity for the development of atherosclerosis and its complications in the coronary arteries. The aim of this review is to integrate publications with clinical experience into a concise profile of the disorder and its management. In less than a century this disease has been recognised, its lipoprotein derangement identified and numerous causal mutations have been detected. Although the phenotype is most commonly due to the occurrence of mutations in the low density lipoprotein receptor, defects in the apolipoprotein B100 may result in a similar phenotype. The same phenotype has also been linked to a gene and its product, PCSK9 and NARC1, that may be involved in the regulation of cholesterol in the cell. In the past few decades statins, by inhibiting cholesterol synthesis at the rate-limiting enzyme (hydroxymethylglutaryl coenzyme A reductase) have been developed and proven safe and effective in reducing the low density lipoprotein cholesterol, promoting regression and reducing mortality and morbidity. Additionally, advances in imaging techniques are allowing non-invasive insights into the impact of the disease on atherosclerosis. For these reasons there should be a high index of suspicion for this treatable condition in which genetic therapy and further modulation of atherosclerosis can be expected in the future.
Related Concept Videos
01:20Lipid-Lowering Drugs: Statins and Miscellaneous Agents
01:26Atherosclerosis III: Management
01:29Cholesterol: Significance and Regulation
Considering cholesterol and...
01:29Pharmacogenomics: Identification of New Drug Targets
01:26Coronary Artery Disease IV: Preventive Measures
01:27Atherosclerosis II: Clinical Manifestations and Diagnostic Tests