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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

Rade N Pejic1

  • 1Department of Family Medicine, Tulane University School of Medicine, New Orleans, LA.

Ochsner Journal
|January 20, 2015
PubMed

Insights

Familial hypercholesterolemia (FH) is a genetic disorder causing high cholesterol. Early diagnosis and treatment, including lifestyle changes and statins, can prevent heart disease in FH patients.

Area of Science:

  • Genetics
  • Cardiology
  • Metabolic Disorders

Background:

  • Familial hypercholesterolemia (FH) is an inherited disorder causing high cholesterol levels.
  • It is characterized by elevated total cholesterol and LDL cholesterol, potentially leading to premature coronary heart disease (CHD).

Purpose of the Study:

  • To review the disease of Familial hypercholesterolemia.
  • To discuss the effects of drug treatments and lifestyle modifications for FH management.

Main Methods:

  • Literature review on Familial hypercholesterolemia.
  • Analysis of treatment effects, including pharmacotherapy and lifestyle interventions.

Main Results:

  • Routine lipid testing can identify most FH cases.
  • Cascade genetic testing is recommended for family members of identified FH patients.
  • Early diagnosis and aggressive treatment with lifestyle changes and statins can prevent premature CHD and other atherosclerotic complications.

Conclusions:

  • Emerging therapies like LDL apheresis and novel agents may benefit patients with homozygous or treatment-resistant FH.
  • Liver transplantation remains the definitive treatment for severe homozygous FH cases.
Abstract

Keywords:
Genetic diseases–inbornhypercholesterolemiahyperlipoproteinemia type II

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