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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
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Familial Hypercholesterolemia: Advances in Recognition and Therapy
Jacqueline L Cartier1, Anne Carol Goldberg1
1Division of Endocrinology, Metabolism, and Lipid Research, Department of Medicine, Washington University School of Medicine, Campus Box 8127, 660 South Euclid, St. Louis, MO 63110, USA.
Progress in Cardiovascular Diseases
|August 2, 2016
Summary
Familial hypercholesterolemia (FH) is a genetic disorder causing high cholesterol and early heart disease. Early detection and treatment, including statins and other therapies, are crucial for managing FH risks.
Area of Science:
- Genetics and Cardiovascular Medicine
- Focuses on inherited lipid disorders and their impact on heart health.
Background:
- Familial hypercholesterolemia (FH) is an autosomal co-dominant disorder.
- Characterized by elevated low-density lipoprotein cholesterol (LDL-C).
- Significantly increases the risk of premature cardiovascular disease.
Purpose of the Study:
- To review the pathophysiology, diagnosis, and management of FH.
- Highlight the importance of early detection and treatment.
- Discuss current and emerging therapeutic strategies.
Main Methods:
- Review of existing literature on FH.
- Analysis of diagnostic criteria and clinical presentation.
- Evaluation of pharmacologic and non-pharmacologic treatment options.
Main Results:
- FH is under-diagnosed but critical to identify early.
- High-intensity statins are the primary treatment.
- Combination therapies, apheresis, and newer agents like PCSK9 inhibitors are vital for management.
Conclusions:
- Early diagnosis and timely intervention are key to mitigating cardiovascular risk in FH.
- A multi-faceted treatment approach is often required.
- Ongoing research, including outcome studies for PCSK9 inhibitors, will further refine FH management.
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