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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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Identification of people with heterozygous familial hypercholesterolemia

Annie Haase1, Anne C Goldberg

  • 1Division of Endocrinology, Metabolism, and Lipid Research, Department of Medicine, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

Current Opinion in Lipidology
|July 18, 2012
PubMed

Insights

Familial hypercholesterolemia (FH) is an underdiagnosed genetic condition increasing cardiovascular risk. Early identification and treatment are crucial for preventing premature atherosclerotic vascular disease.

Area of Science:

  • Genetics
  • Cardiology
  • Public Health

Background:

  • Familial hypercholesterolemia (FH) is an underdiagnosed autosomal codominant disorder.
  • FH significantly elevates the risk of early cardiovascular disease if left untreated.
  • Early diagnosis and intervention are key to mitigating this excess risk.

Purpose of the Study:

  • To review the clinical challenges and strategies for identifying individuals with FH.
  • To provide a clinician's perspective on FH detection.

Main Methods:

  • Review of published recommendations and strategies for FH identification.
  • Analysis of global approaches to FH screening.

Main Results:

  • Multiple sets of recommendations for FH identification exist globally (Australasia, Europe, USA).
  • Various strategies are being developed worldwide for FH case finding.

Conclusions:

  • Ongoing efforts are necessary to refine FH identification methods.
  • Timely diagnosis of FH is essential to prevent atherosclerotic vascular disease.
Abstract

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