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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Familial hypercholesterolaemia: the Cape Town experience
1Lipidology Division, Department of Internal Medicine, Groote Schuur Hospital and University of Cape Town.
Summary
Familial hypercholesterolaemia (FH) is a common genetic disorder causing high LDL cholesterol. Early detection and treatment are crucial for managing cardiovascular risks associated with FH.
Area of Science:
- Cardiology
- Genetics
- Metabolic Disorders
Background:
- Familial hypercholesterolaemia (FH) is an autosomal dominant inherited disorder.
- It is characterized by elevated plasma low-density lipoprotein (LDL) cholesterol, tendon xanthomata, and premature ischemic heart disease.
- FH is the most common monogenic disorder of lipoprotein metabolism.
Purpose of the Study:
- To analyze the clinical and biochemical details of 1,031 patients with FH.
- To understand the prevalence and characteristics of FH in a specific patient cohort.
- To identify the frequency of specific clinical manifestations and cardiovascular complications.
Main Methods:
- Retrospective analysis of clinical and biochemical data from 1,031 FH patients.
- Classification of patients based on ethnicity.
- Assessment of physical signs such as tendon xanthomata, arcus cornealis, and xanthelasma.
- Review of cardiovascular complications and mortality data.
- Genetic testing for locally prevalent mutations in a subset of patients.
Main Results:
- FH patients presented at a mean age of 44 years.
- Tendon xanthomata (80%), arcus cornealis (36%), and xanthelasma (14%) were common findings.
- Cardiovascular complications included ischemic heart disease (43%), peripheral vascular disease (3.7%), stroke (1.5%), and transient ischemic attacks (1.3%).
- The mean age of death was 55 years (51 in men, 61 in women).
- A defective gene was identified in 46% of the cohort.
Conclusions:
- Familial hypercholesterolaemia is a significant condition associated with premature cardiovascular disease.
- Clinical manifestations like tendon xanthomata and arcus cornealis are prevalent.
- Early diagnosis and management are essential for improving outcomes in FH patients.
- Genetic identification of mutations is feasible in a substantial proportion of patients.
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