Familial chylomicronemia syndrome

Title

Other Names:

Hyperlipoproteinemia type 1

Categories:

Endocrine Diseases; Metabolic disorders

Subtypes:

Apolipoprotein C-II deficiency; Familial lipoprotein lipase deficiency

Summary Summary

Hyperlipoproteinemia type 1 is an inherited condition that disrupts the normal breakdown of fats in the body, causing a large amount of fat to build up in the blood.^[1] This condition is characterized by inflammation of the pancreas (pancreatitis), abdominal pain, enlargement of the liver and spleen (hepatosplenomegaly), and small yellow skin lesions called eruptive xanthomas.^[1]^[2] Hyperlipoproteinemia type 1 is caused by mutations in the LPL gene. This condition is inherited in an autosomal recessive pattern.^[1] Treatment aims to control the symptoms through a low-fat diet.^[2]

Last updated: 3/8/2016

Symptoms Symptoms

The signs and symptoms of hyperlipoproteinemia type 1 usually begin during childhood. Approximately 25 percent of affected individuals develop symptoms before age 1. The characteristic features of hyperlipoproteinemia type 1 include:^[1]^[2]^[3]

Abdominal pain (may manifest as colic in infancy)

Nausea, vomiting, loss of appetite

Failure to thrive in infancy

Musculoskeletal pain (pain in the muscles and bones)

Xanthomas (small, yellow, fat deposits in the skin)

Pancreatitis

Enlarged liver and spleen (hepatosplenomegaly)

In some cases, neurological features develop, including depression, memory loss, and mild intellectual decline (dementia). These symptoms typically go away once dietary fat levels are lowered.^[1]^[3]

Last updated: 3/8/2016

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.

Showing of 27 |

Medical Terms	Other Names	Learn More: HPO ID
100% of people have these symptoms
Hypertriglyceridemia	Increased plasma triglycerides Increased serum triglycerides Increased triglycerides [ more ]	0002155
Increased circulating chylomicron concentration		0012238
80%-99% of people have these symptoms
Acute pancreatitis	Acute pancreatic inflammation	0001735
Episodic abdominal pain		0002574
Hepatosplenomegaly	Enlarged liver and spleen	0001433
Lipemia retinalis		0000660
Recurrent pancreatitis	Recurring pancreas inflammation	0100027
30%-79% of people have these symptoms
Eruptive xanthomas		0001013
Hepatic steatosis	Fatty infiltration of liver Fatty liver [ more ]	0001397
5%-29% of people have these symptoms
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Nausea and vomiting		0002017
1%-4% of people have these symptoms
Abnormal emotion/affect behavior		0100851
Dementia	Dementia, progressive Progressive dementia [ more ]	0000726
Depressivity	Depression	0000716
Diabetes mellitus		0000819
Jaundice	Yellow skin Yellowing of the skin [ more ]	0000952
Memory impairment	Forgetfulness Memory loss Memory problems Poor memory [ more ]	0002354
Perianal abscess		0009789
Pulmonary embolism	Blood clot in artery of lung	0002204
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
Hypercholesterolemia	Elevated serum cholesterol Elevated total cholesterol Increased total cholesterol [ more ]	0003124
Hyperlipidemia	Elevated lipids in blood	0003077
Lactescent serum		0031028
Nausea		0002018
Pancreatitis	Pancreatic inflammation	0001733
Splenomegaly	Increased spleen size	0001744
Vomiting	Throwing up	0002013

Showing of 27 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Do you have updated information on this disease? We want to hear from you.

Cause Cause

Hyperlipoproteinemia type 1 is caused by mutations in the LPL gene. This gene provides instructions for producing an enzyme called lipoprotein lipase. This enzyme helps break down fats called triglycerides, which are carried by molecules called lipoproteins.^[1]

Mutations in the LPL gene lead to a reduction or elimination of lipoprotein lipase activity, which prevents the enzyme from effectively breaking down triglycerides. As a result, triglycerides attached to lipoproteins build up in the blood and tissues, leading to the signs and symptoms of hyperlipoproteinemia type 1.^[1]

Last updated: 3/8/2016

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Orphanet lists international laboratories offering diagnostic testing for this condition.

Treatment Treatment

Treatment for hyperlipoproteinemia type 1 is intended to control blood triglyceride levels with a very low-fat diet. It is recommended that individuals with this condition eat no more than 20 grams of fat per day.^[2] Medium-chain fatty acids (such as coconut oil) can be incorporated into the diet, as they are absorbed by the body in a different manner. Dietary counseling may be helpful to maintain adequate calorie and nutrient intake.^[3]

Last updated: 3/8/2016

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

American Dietetic Association
120 South Riverside Plaza, Suite 2000
Chicago, IL 60606-6995
Toll-free: 800-366-1655
E-mail: knowledge@eatright.org
Website: http://www.eatright.org/Public/

Research Research

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 Familial chylomicronemia syndrome. 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.
Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org

Social Networking Websites

RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

Patient Access Network Foundation (PAN Foundation) has Assistance Programs for those with health insurance who reside in the United States. The disease fund status can change over time, so you may need to check back if funds are not currently available.

Learn More 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

MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
Genetics Home Reference (GHR) contains information on Familial chylomicronemia syndrome. This website is maintained by the National Library of Medicine.
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.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
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.
PubMed is a searchable database of medical literature and lists journal articles that discuss Familial chylomicronemia syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

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. Submit a new question

I was born with hyperlipoproteinemia type 1, and I would like more information on my disease. I have been pretty much on my own due to lack of knowledge by my doctors. See answer

Have a question? Contact a GARD Information Specialist.

References References

Familial lipoprotein lipase deficiency. Genetics Home Reference Website. February 2015; https://ghr.nlm.nih.gov/condition/familial-lipoprotein-lipase-deficiency.
Martin LJ, Zieve D. Familial lipoprotein lipase deficiency. MedlinePlus. April 30, 2015; http://www.nlm.nih.gov/medlineplus/ency/article/000408.htm.
Brunzell JD. Familial Lipoprotein Lipase Deficiency. GeneReviews. April 24, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1308/.

Do you know of a review article? We want to hear from you.

You can help advance
rare disease research! You can help advance rare disease research!