National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Hyperlipidemia type 3


Other Names:
Hyperlipoproteinemia type 3; Hyperlipoproteinemia type III; Broad-betalipoproteinemia; Hyperlipoproteinemia type 3; Hyperlipoproteinemia type III; Broad-betalipoproteinemia; Broad beta disease; Familial dysbetalipoproteinemia; Remnant removal disease See More
Categories:
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]
Last updated: 12/29/2016

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.

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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
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes all other forms of atherogenic hyperlipidemias such as familial hypercholesterolemia, and familial hypertriglyceridemia.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Hyperlipidemia type 3. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Hyperlipoproteinemia Type III. NORD. 2005; https://rarediseases.org/rare-diseases/hyperlipoproteinemia-type-iii/.
  2. Benlian, Pascale. Hyperlipoproteinemia type 3. Orphanet. March 2014; http://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/.