Rare Nephrology News

Disease Profile

Hyperlipidemia type 3

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Adolescent

ICD-10

E78.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Hyperlipoproteinemia type 3; Hyperlipoproteinemia type III; Broad-betalipoproteinemia;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Metabolic disorders

Summary

Hyperlipidemia type 3 is an inherited condition that disrupts the normal breakdown of fats (lipids) in the body, causing a large amount of certain fatty materials to build up in the body. Some individuals never have symptoms of this condition. Symptoms usually do not appear unless a second genetic or environmental factor adds to increased lipid levels. Symptoms may include: yellowish lipid-filled bumps on the skin (xanthomas), inflammation of the pancreas (pancreatitis), and a buildup of fat in the blood vessels (atherosclerosis). Hyperlipidemia type 3 may lead to the development of cardiovascular disease.[1][2] This condition is caused by mutations in the APOE gene. The inheritance of this condition is considered to be complicated, as having mutations in the APOE gene often does not lead to the development of symptoms without the influence of other factors. Most people with symptoms of hyperlipidemia type 3 have two mutations in the APOE gene, inherited in an autosomal recessive manner.[2][3] Treatment often includes management of diet, exercise, and use of lipid-lowering medications.[3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Decreased HDL cholesterol concentration
Decreased circulating high-density lipoprotein cholesterol
Decreased HDL cholesterol
Low HDL-cholesterol

[ more ]

0003233
Hypercholesterolemia
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol

[ more ]

0003124
Hypertriglyceridemia
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides

[ more ]

0002155
Increased LDL cholesterol concentration
Increased circulating LDL level
Increased LDL cholesterol

[ more ]

0003141
30%-79% of people have these symptoms
Corneal arcus
0001084
Diabetes mellitus
0000819
Hepatic steatosis
Fatty infiltration of liver
Fatty liver

[ more ]

0001397
Hepatomegaly
Enlarged liver
0002240
Obesity
Having too much body fat
0001513
Tendon xanthomatosis
0010874
Type IV atherosclerotic lesion
0002635
Xanthelasma
Fatty deposits in skin around the eyes
Fatty deposits on eyelids

[ more ]

0001114
5%-29% of people have these symptoms
Accelerated atherosclerosis
0004943
Acute pancreatitis
Acute pancreatic inflammation
0001735
Angina pectoris
0001681
Aortic atherosclerotic lesion
0012397
Gout
0001997
Hypothyroidism
Underactive thyroid
0000821
Peripheral arterial stenosis
0004950
Premature coronary artery atherosclerosis
Premature coronary artery disease
0005181
Renal steatosis
Fatty kidney
0000799

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

References

  1. Hyperlipoproteinemia Type III. NORD. 2005; https://rarediseases.org/rare-diseases/hyperlipoproteinemia-type-iii/.
  2. Benlian, Pascale. Hyperlipoproteinemia type 3. Orphanet. March 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=412.
  3. Greyshock, Nicole, et al.. APOE p.Leu167del-Related Lipid Disorders. GeneReviews. June 12, 2014; https://www.ncbi.nlm.nih.gov/books/NBK208534/.