Chylomicron retention disease

Reviewed October 2008

What is chylomicron retention disease?

Chylomicron retention disease is an inherited disorder that affects the absorption of dietary fats, cholesterol, and certain fat-soluble vitamins. As food is digested after a meal, molecules called chylomicrons are formed to carry fat and cholesterol from the intestine into the bloodstream. Chylomicrons are also necessary for the absorption of certain fat-soluble vitamins, such as vitamin E and vitamin D. A lack of chylomicron transport causes severely decreased absorption (malabsorption) of dietary fats and fat-soluble vitamins. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth and development.

The signs and symptoms of chylomicron retention disease appear in the first few months of life. They can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; and fatty, foul-smelling stools (steatorrhea). Other features of this disorder may develop later in childhood and often impair the function of the nervous system. Affected people may eventually develop decreased reflexes (hyporeflexia) and a decreased ability to feel vibrations.

How common is chylomicron retention disease?

Chylomicron retention disease is a rare condition with approximately 40 cases described worldwide.

What genes are related to chylomicron retention disease?

Mutations in the SAR1B gene cause chylomicron retention disease. The SAR1B gene provides instructions for making a protein that is involved in transporting chylomicrons within enterocytes, which are cells that line the intestine and absorb nutrients.

SAR1B gene mutations impair the release of chylomicrons into the bloodstream. A lack of chylomicrons in the blood prevents dietary fats and fat-soluble vitamins from being used by the body, leading to the nutritional and developmental problems seen in people with chylomicron retention disease.

Related Gene(s)

Changes in this gene are associated with chylomicron retention disease.

SAR1B

How do people inherit chylomicron retention disease?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of chylomicron retention disease?

These resources address the diagnosis or management of chylomicron retention disease and may include treatment providers.

Genetic Testing Registry: Chylomicron retention disease (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0795956)
MedlinePlus Encyclopedia: Malabsorption (http://www.nlm.nih.gov/medlineplus/ency/article/000299.htm)

You might also find information on the diagnosis or management of chylomicron retention disease in Educational resources (http://www.ghr.nlm.nih.gov/condition/chylomicron-retention-disease/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/chylomicron-retention-disease/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about chylomicron retention disease?

You may find the following resources about chylomicron retention disease helpful. These materials are written for the general public.

MedlinePlus - Health information
- Encyclopedia: Malabsorption (http://www.nlm.nih.gov/medlineplus/ency/article/000299.htm)
- Health Topic: Malabsorption Syndromes (http://www.nlm.nih.gov/medlineplus/malabsorptionsyndromes.html)
- Health Topic: Metabolic Disorders (http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html)
Educational resources - Information pages
- Colorado State University: Fat-Soluble Vitamins (http://www.ext.colostate.edu/pubs/foodnut/09315.html)
- Merck Manual Home Edition for Patients and Caregivers: Hypolipoproteinemia (http://www.merckmanuals.com/home/hormonal_and_metabolic_disorders/cholesterol_disorders/hypolipoproteinemia.html)
- Merck Manual Home Edition for Patients and Caregivers: Overview of Malabsorption (http://www.merckmanuals.com/home/digestive_disorders/malabsorption/overview_of_malabsorption.html)
- Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=71)
Patient support - For patients and families
CLIMB: Children Living with Inherited Metabolic Diseases (http://www.climb.org.uk/)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

Genetic Testing Registry - Repository of genetic test information
- Genetic Testing Registry: Chylomicron retention disease (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0795956)
ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/ct2/results?cond=%22chylomicron%20retention%20disease%22)
PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((chylomicron%20retention%20disease%5BTIAB%5D)%20OR%20(cmrd%5BTIAB%5D)%20OR%20(anderson%20disease%5BTIAB%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog (http://omim.org/entry/246700)

What other names do people use for chylomicron retention disease?

Anderson disease
Anderson syndrome
CMRD
hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells
lipid transport defect of intestine

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about chylomicron retention disease?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding chylomicron retention disease?

apolipoprotein ; autosomal ; autosomal recessive ; cell ; cholesterol ; chylomicrons ; failure to thrive ; gene ; HDL ; intestine ; LDL ; lipid ; malabsorption ; nervous system ; protein ; recessive ; soluble ; steatorrhea ; syndrome ; vitamins

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

Boldrini R, Biselli R, Bosman C. Chylomicron retention disease--the role of ultrastructural examination in differential diagnosis. Pathol Res Pract. 2001;197(11):753-7. (http://www.ncbi.nlm.nih.gov/pubmed/11770019?dopt=Abstract)
Charcosset M, Sassolas A, Peretti N, Roy CC, Deslandres C, Sinnett D, Levy E, Lachaux A. Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein. Mol Genet Metab. 2008 Jan;93(1):74-84. Epub 2007 Oct 22. (http://www.ncbi.nlm.nih.gov/pubmed/17945526?dopt=Abstract)
Shoulders CC, Naoumova RP. The genes and proteins of atherogenic lipoprotein production. Biochem Soc Trans. 2004 Feb;32(Pt 1):70-4. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14748715?dopt=Abstract)
Silvain M, Bligny D, Aparicio T, Laforêt P, Grodet A, Peretti N, Ménard D, Djouadi F, Jardel C, Bégué JM, Walker F, Schmitz J, Lachaux A, Aggerbeck LP, Samson-Bouma ME. Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities. Clin Genet. 2008 Dec;74(6):546-52. doi: 10.1111/j.1399-0004.2008.01069.x. Epub 2008 Sep 11. (http://www.ncbi.nlm.nih.gov/pubmed/18786134?dopt=Abstract)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.



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