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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
[Diagnosis and treatment of familial hypercholesterolemia in Spain: Consensus document]
Pedro Mata1, Rodrigo Alonso2, Antonio Ruiz3
1Medicina Interna, Presidente de la Fundación Hipercolesterolemia Familiar, Madrid, España.
Insights
Familial hypercholesterolemia (FH) is a genetic disorder causing high LDL-cholesterol. Early detection and treatment significantly reduce heart disease risk, but FH remains under-diagnosed and under-treated.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Metabolic Disorders
Context:
- Familial hypercholesterolemia (FH) is a prevalent genetic disorder characterized by elevated LDL-cholesterol levels from birth.
- It leads to xanthomas and premature coronary heart disease, significantly increasing morbidity and mortality.
- Despite available effective treatments, FH is frequently under-diagnosed and undertreated globally.
Purpose:
- To provide consensus recommendations for the diagnosis, screening, and treatment of FH in pediatric and adult populations.
- To offer specific guidance for specialists and general practitioners to enhance patient management.
- To reduce the substantial burden of coronary heart disease associated with FH.
Summary:
- Early identification via cascade screening using LDL-cholesterol levels and genetic testing is crucial for timely intervention.
- Long-term statin therapy can normalize vascular risk; however, many patients require combination therapies (e.g., ezetimibe) or lipoprotein apheresis to achieve LDL-c goals.
- Recommended LDL-c targets vary by age and risk, with <70 mg/dL for high-risk adults.
Impact:
- Improved clinical management of FH patients through standardized diagnostic and therapeutic approaches.
- Reduced coronary morbidity and mortality by facilitating early detection and effective treatment of FH.
- Potential to decrease the overall public health burden of premature cardiovascular disease linked to genetic lipid disorders.
Abstract:
Familial hypercholesterolemia (FH) is a common genetic disorder, clinically manifested since birth, and associated with very high levels of plasma LDL-cholesterol (LDL-c), xanthomas, and premature coronary heart disease. Its early detection and treatment reduces coronary morbidity and mortality. Despite effective treatment being available, FH is under-diagnosed and under-treated. Identification of index cases and cascade screening using LDL-c levels and genetic testing are the most cost-effective strategies for detecting new cases and starting early treatment. Long-term treatment with statins has decreased the vascular risk to the levels of the general population. LDL-c targets are <130mg/dL for children and young adults, <100mg/dL for adults, and <70mg/dL for adults with known coronary heart disease or diabetes. Most patients do not to reach these goals, and combined treatments with ezetimibe or other drugs may be necessary. When the goals are not achieved with the maximum tolerated drug treatment, a reduction ≥50% in LDL-c levels can be acceptable. Lipoprotein apheresis can be useful in homozygous, and in treatment-resistant severe heterozygous, cases. This Consensus Paper gives recommendations on the diagnosis, screening, and treatment of FH in children and adults, and specific advice to specialists and general practitioners with the objective of improving the clinical management of these patients, in order to reduce the high burden of coronary heart disease.
