Hyperlipoproteinemia, Type III

Alternative Names

Apolipoprotein E, Deficiency Or Defect Of
Dysbetalipoproteinemia Due To Defect in Apolipoprotein E-d
Familial Hyperbeta- And Prebetalipoproteinemia
Familial Hypercholesterolemia With Hyperlipemia
Hyperlipemia With Familial Hypercholesterolemic Xanthomatosis
Broad-Betalipoproteinemia
Floating-Betalipoproteinemia
Coronary Artery Disease, Severe, Susceptibility To, Included
Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 5, Included
LDLCQ5, Included

Associated Genes

Apolipoprotein E

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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

617347

Gene Map Locus

19q13.32

Description

Hyperlipoproteinemia type III, also called dysbetalipoproteinemia, is characterized by hyperlipidemia due to accumulation of remnants of the triglyceride (TG)-rich lipoproteins (TGRL), very low density lipoproteins (VLDL), and chylomicrons (CM), in response to dysfunctional genetic variants of apolipoprotein E or absence of apoE [From OMIM]

Epidemiology in the Arab World

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Lebanon

Other Reports

Lebanon

Nestel et al. 1984 described two Lebanese cousins with homozygous familial hypercholesterolemia (unidentified subtype) and apoprotein E3 deficiency; dysbetalipoproteinemia was identified in one of the patients. apoE Isoform study revealed E3/E2 in one boy and E2/E2 in the other.

External Links

https://rarediseases.info.nih.gov/diseases/6703/disease

Contributors

Sami Bizzari: 11.02.2021

Edit History

Pratibha Nair: 06.06.2021
Sami Bizzari: 11.02.2021