Chylomicron Retention Disease is a rare genetic condition caused by a defect in the SAR1B gene where the body has trouble absorbing and transporting fat from food. This may result in a number of symptoms, including:
- Vomiting or diarrhea
- Foul smelling or pale colored stool
- Poor growth and development -may be referred to as ” failure to thrive”
- Trouble digesting fatty foods
Other possible signs and symptoms
As patients get older other symptoms may develop due in large part to the vitamin deficiencies related to Chylomicron Retention Disease.
- Potential neurologic symptoms including poor balance (Ataxia)
- Minimal visual abnormalities
Signs and symptoms doctors can test for
In a clinical setting there are some signals that a child with Chylomicron Retention Disease would exhibit through observation and some simple clinical tests and markers.
- Low cholesterol level
- Normal triglyceride level
- Low levels of vitamins E and A
- Elevated creatine kinase level
Getting a Diagnosis
A diagnosis of Chylomicron Retention Disease typically begins with a clinical examination and tests such as a lipid profile and vitamin level testing. Further tests may include an intestinal biopsy and a genetic profile specifically examining the SAR1B gene.
Common Misdiagnoses
Chylomicron Retention Disease could be misdiagnosed as a number of other conditions including vitamin deficiencies, Celiac Disease, Freidreich’s Ataxia, Chronic Pancreatitis, or other lipid metabolic disorders.
Possible Treatment Options
Unlike many rare diseases, Chylomicron Retention Disease is treatable. Possible treatments and therapies may include, but are not limited to:
- Adherence to a very low fat diet
- Administration of high doses of Vitamins A, E, K, and possibly D
- Regular Ophthalmological Exams
- Electrocardiograms (ECG)
- Nerve conduction studies
Letters Regarding Vitamin Therapies
Below are letters written by our medical advisory board that can be given to doctors or insurance companies illustrating the need for vitamin therapies in high doses to treat these illnesses.
Published Articles Related To CMRD
Below are some articles published in medical journals and other media relating to CMRD
- New Classification and Management of Abetalipoproteinemia and Related Disorders – Published by the ABL+ Foundation
- Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease – Journal of Lipid Research article
- Chylomicron retention disease: genetics, biochemistry, and clinical spectrum – PubMed article
- Chylomicron Retention Disease in A Male Infant: A Rare Case from Pakistan – PubMed article
- Anderson’s disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence – Orphanet Journal of Rare Diseases artcile
- Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria – PubMed article
- Lessons from chylomicron retention disease: a potential new approach for the treatment of hypercholesterolemia? – Tandfonline article
CMRD On The Web
Below are websites with more information about Chylomicron Retention Disease
- National Organization Of Rare Diseases (NORD)
- National Institutes Of Health (PubMed)
- MedicinePlus
- NIH GeneReviews
- Orphanet Journal Of Rare Diseases
- ScienceDirect
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