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Familial type 3 hyperlipoproteinemia

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Apolipoprotein e, deficiency or defect of; Broad beta disease; Broad-betalipoproteinemia; Dysbetalipoproteinemia; Dysbetalipoproteinemia due to defect in apolipoprotein e-d; Familial dysbetalipoproteinemia; Familial hyperbeta- and prebetalipoproteinemia; Familial hypercholesterolemia with hyperlipemia; Floating-betalipoproteinemia; Hyperlipemia with familial hypercholesterolemic xanthomatosis; Hyperlipoproteinemia type 3; Hyperlipoproteinemia type III; Remnant removal disease
SNOMED CT: Familial type 3 hyperlipoproteinemia (398796005); Familial hyperbetalipoproteinemia and hyperprebetalipoproteinemia (398796005); Remnant hyperlipidemia (398796005); Remnant hyperlipoproteinemia (398796005); Dysbetalipoproteinemia (398796005); Primary dysbetalipoproteinemia (398796005); Carbohydrate induced hyperlipemia (398796005); Fredrickson type III hyperlipoproteinemia (398796005); Familial hypercholesterolemia with hyperlipemia (398796005); Floating beta disease (398796005); Broad beta disease (398796005); Apolipoprotein E deficiency (398796005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Non-Mendelian inheritance
MedGen UID:
Concept ID:
Genetic Function
Source: Orphanet
A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
Gene (location): APOE (19q13.32)
Monarch Initiative: MONDO:0018473
OMIM®: 617347
Orphanet: ORPHA412


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 (summary by Blum, 2016). [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Familial type 3 hyperlipoproteinemia in Orphanet.

Professional guidelines


Navarro Hermoso A, Valdivielso P
Clin Investig Arterioscler 2021 May;33 Suppl 2:75-79. doi: 10.1016/j.arteri.2021.01.004. PMID: 34006359
Gallo A, Béliard S, D'Erasmo L, Bruckert E
Curr Atheroscler Rep 2020 Aug 27;22(11):63. doi: 10.1007/s11883-020-00885-1. PMID: 32852651
Turgeon RD, Barry AR, Pearson GJ
Can Fam Physician 2016 Jan;62(1):32-7. PMID: 26796832Free PMC Article

Recent clinical studies


Schneider WJ, Kovanen PT, Brown MS, Goldstein JL, Utermann G, Weber W, Havel RJ, Kotite L, Kane JP, Innerarity TL, Mahley RW
J Clin Invest 1981 Oct;68(4):1075-85. doi: 10.1172/jci110330. PMID: 6270194Free PMC Article

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