Living with Chylomicron retention disease
An inherited condition where the body cannot absorb fats, cholesterol, and some vitamins well, mainly affecting digestion and nerves.
Understanding Chylomicron retention disease
It begins in infancy or early childhood with slow growth and weight gain, chronic diarrhea, and foul-smelling, fatty stools. Blood cholesterol is low. Some people have a fatty liver and enlarged liver. Nervous system problems can develop later in childhood. Heart differences and muscle wasting are rare.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Chronic diarrhea
- Fatty, foul-smelling stools (steatorrhea)
- Swollen belly
- Slow growth and weight gain
- Vomiting
- Retina disease (retinopathy)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in SAR1B are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the SAR1B gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: anderson disease; anderson syndrome; cmrd; crd; hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells; lipid transport defect of intestine
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Chylomicron retention disease.
Explore research for Chylomicron retention disease
Explore actively recruiting Chylomicron retention disease studies with HealthSpark.
Find actively recruiting studies for Chylomicron retention disease with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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