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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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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
PubMed

Insights

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.

Keywords:
AlirocumabCascade screeningEzetimibeFamilial hypercholesterolemiaGene therapyLomitapideMipomersenProprotein convertase subtilisin/kexin type 9 (PCSK9)StatinUniversal screening

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