Related Experiment Video

Updated: Jun 18, 2025

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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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: From Clinical Suspicion to Novel Treatments

Saeid Mirzai1, Parag Anilkumar Chevli2, Rishi Rikhi3

  • 1Department of Internal Medicine, Cleveland Clinic, Cleveland, OH 44195, USA.

Reviews in Cardiovascular Medicine
|July 30, 2024
PubMed

Insights

Familial hypercholesterolemia (FH) is a common genetic disorder causing high LDL cholesterol from birth, increasing early cardiovascular disease (CVD) risk. Early diagnosis and treatment are crucial for managing FH and preventing CVD.

Area of Science:

  • Genetics
  • Cardiology
  • Public Health

Background:

  • Familial hypercholesterolemia (FH) is the most common monogenic disorder globally.
  • It leads to elevated low-density lipoprotein cholesterol (LDL-C) from birth, significantly increasing premature cardiovascular disease (CVD) risk.

Purpose of the Study:

  • To review the importance of early diagnosis of FH.
  • To discuss available treatment options for FH.
  • To emphasize the need for increased awareness and screening for FH.

Main Methods:

  • Literature review focusing on FH diagnosis and treatment.
  • Analysis of current challenges in FH identification.
  • Discussion of recommended screening and testing protocols.

Main Results:

  • Delayed diagnosis is a major barrier to effective FH management.
  • Early and aggressive LDL-C lowering therapies are recommended.
  • Cascade lipid and/or genetic testing in first-degree relatives is advised due to autosomal dominant inheritance.

Conclusions:

  • Early FH diagnosis is critical for mitigating CVD risk.
  • Improved screening and awareness can lead to better patient outcomes.
  • Timely treatment of FH reduces the long-term burden of cardiovascular disease.

Keywords:
atherosclerosiscardiovascular eventscascade screeningdiagnosisfamilial hypercholesterolemiagenetic testingheterozygoushomozygouslipid-lowering therapieslow-density lipoprotein

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