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Updated: May 6, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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[Familial type III hyperlipoproteinemia].

Masaaki Eto1, Mieko Saito

  • 1Department of Clinical Pharmacology, School of Pharmaceutical Sciences, Ohu University.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|November 12, 2013
PubMed
Summary

Familial type III hyperlipoproteinemia (HLP) is linked to high remnant cholesterol, increasing atherosclerosis risk. Early detection using remnant cholesterol levels aids in managing this genetic condition, especially in Japanese patients with diabetes and metabolic syndrome.

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Area of Science:

  • Lipid metabolism
  • Cardiovascular disease
  • Genetics

Context:

  • Familial type III hyperlipoproteinemia (HLP) is characterized by elevated plasma triglyceride and remnant lipoproteins.
  • Remnant lipoproteins, including chylomicron and VLDL remnants (IDL), are implicated in premature or accelerated atherosclerosis.
  • The apo E2/2 genotype is specifically associated with type III HLP.

Purpose:

  • To examine the clinical features of type III HLP in Japanese patients with the apo E2/2 genotype.
  • To identify diagnostic markers for type III HLP.
  • To investigate the contribution of diabetes and metabolic syndrome to type III HLP in Japan.

Summary:

  • The study analyzed 26 Japanese patients with type III HLP and the apo E2/2 genotype.
  • Mean plasma levels were TG: 374 mg/dL, Total Cholesterol: 256 mg/dL, LDL Cholesterol: 74 mg/dL, and Remnant Cholesterol (RLP-C): 49 mg/dL.
  • High plasma RLP-C (>30 mg/dL) and RLP-C/TG ratio (>0.1) are effective diagnostic indicators for type III HLP.
  • Diabetes mellitus (54.2%) and metabolic syndrome (66.2%) were prevalent, suggesting their contribution to type III HLP occurrence in Japan.
  • Coronary heart disease (CHD) affected 41.7% of patients, highlighting a strong association between type III HLP and atherosclerosis in this population.

Impact:

  • This research provides valuable diagnostic criteria for type III HLP, utilizing remnant cholesterol levels.
  • It underscores the significant role of diabetes and metabolic syndrome in the pathogenesis of type III HLP in Japanese individuals.
  • The findings emphasize the strong link between type III HLP and atherosclerosis, particularly coronary heart disease, in Japan, necessitating targeted preventive strategies.