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Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease.
APOE encodes apolipoprotein E (317 aa). APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids. Highest expression in Adrenal Gland (3,543 TPM) and Liver (3,182 TPM).
Hyperlipoproteinemia type 3 is associated with mutations in the APOE gene on chromosome 19.
APOE is classified as a druggable target (Druggable Genome category) with score 0.9.
Genetic testing for APOE is available. Testing is considered confirmatory for diagnosis.
Estimated prevalence: 1-5 in 10,000 (Uncommon).
1 clinical trial registered. Interventions under study include other interventions and gene therapy. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.
9 publications have been identified in PubMed for hyperlipoproteinemia type 3. Research spans Clinical Trial Publication (33%), Review / Meta-Analysis (22%), and Basic Science / Preclinical (22%).
Li Y (2026). [PMID: 41572203](https://pubmed.ncbi.nlm.nih.gov/41572203/). *BMC infectious diseases*. [Clinical Trial Publication]
Li F (2025). [PMID: 40535644](https://pubmed.ncbi.nlm.nih.gov/40535644/). *American journal of translational research*. [Clinical Trial Publication]
Zhang S (2025). [PMID: 39993083](https://pubmed.ncbi.nlm.nih.gov/39993083/). *Medicine*. [Review / Meta-Analysis]
Emmert AS (2025). [PMID: 40147599](https://pubmed.ncbi.nlm.nih.gov/40147599/). *Arthroscopy : the journal of arthroscopic & related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association*. [Review / Meta-Analysis]
He Q (2025). [PMID: 39632416](https://pubmed.ncbi.nlm.nih.gov/39632416/). *Diabetes, obesity & metabolism*. [Clinical Trial Publication]
Cooney EC (2024). [PMID: 38677354](https://pubmed.ncbi.nlm.nih.gov/38677354/). *Molecular phylogenetics and evolution*. [Basic Science / Preclinical]
Son J (2024). [PMID: 38687597](https://pubmed.ncbi.nlm.nih.gov/38687597/). *Clinical cancer research : an official journal of the American Association for Cancer Research*. [Epidemiology / Natural History]
Niimi M (2024). [PMID: 39087075](https://pubmed.ncbi.nlm.nih.gov/39087075/). *Frontiers in cardiovascular medicine*. [Basic Science / Preclinical]
Maric GD (2024). [PMID: 39565794](https://pubmed.ncbi.nlm.nih.gov/39565794/). *PloS one*. [Epidemiology / Natural History]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:43 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center