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Updated: Jun 4, 2026
A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Subjects with molecularly defined familial hypercholesterolemia or familial defective apoB-100 are not being
Trond P Leren1, Knut Erik Berge
1Medical Genetics Laboratory, Department of Medical Genetics, Oslo University Hospital Rikshospitalet, Oslo, Norway.
Insights
Familial hypercholesterolemia (FH) and familial defective apoB-100 (FDB) patients are often diagnosed late and undertreated. Early lipid-lowering therapy is crucial to prevent premature coronary heart disease in FH/FDB individuals.
Area of Science:
- Cardiovascular Genetics
- Lipid Metabolism Disorders
- Pharmacotherapy Efficacy
Background:
- Familial hypercholesterolemia (FH) and familial defective apoB-100 (FDB) are genetic conditions leading to high cholesterol.
- Early diagnosis and treatment are vital for preventing premature cardiovascular events.
Purpose of the Study:
- To assess the adequacy of treatment for individuals with genetically diagnosed FH or FDB.
- To identify factors contributing to inadequate management of these lipid disorders.
Main Methods:
- A questionnaire on medical history was distributed to 2611 FH/FDB patients.
- Lipid levels were measured via blood samples from participants.
- Treatment adherence and drug titration were evaluated.
Main Results:
- Only 36.6% of subjects participated; mean age for starting therapy was 33.4 years.
- Adequate treatment was achieved in only 47.3% of patients, often due to undertreatment.
- Lipid-lowering therapy initiated before age 20 is recommended to prevent coronary heart disease.
Conclusions:
- Most FH/FDB patients are diagnosed late and receive insufficient treatment.
- Normalization of LDL cholesterol from a young age is essential for preventing premature coronary heart disease.
- Optimizing lipid-lowering drug dosages and early intervention are key management strategies.
Objectives:
To study whether subjects with a molecular genetic diagnosis of familial hypercholesterolemia (FH) or familial defective apoB-100 (FDB) are being adequately treated.
Design:
A questionnaire regarding medical history was sent to 2611 subjects who had been provided with a molecular genetic diagnosis of FH or FDB, and a blood sample was obtained for lipid measurements.
Results:
956 (36.6%) of the 2611 subjects participated. The mean age for starting lipid-lowering therapy was 33.4 (±12.1) years. Among those below 18 years of age, only 20.4% were on lipid-lowering drugs, whereas 89.1% of those aged 18 and above were on lipid-lowering drugs. The mean levels of total serum cholesterol and LDL-cholesterol were 5.7 (±1.5) mmol/l and 3.9 (±1.3) mmol/l, respectively. Among those who were on lipid-lowering drugs, 29.0% and 12.2% had levels of LDL cholesterol below 3.0 mmol/l and 2.6 mmol/l, respectively. Only 47.3% of the 956 subjects were considered as being adequately treated largely due to a failure to titrate their drug regimens. From the use of cholesterol-years score, lipid-lowering therapy must start before the age of 20 in order to prevent the subjects from contracting premature coronary heart disease.
Conclusion:
The majority of FH/FDB subjects are being diagnosed late in life and are not being adequately treated. In order to prevent them from contracting premature coronary heart disease, it is key that levels of LDL cholesterol are normalized from a young age and that sufficient doses of lipid-lowering drugs are being used.
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