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Chylomicron retention disease
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Chylomicron retention disease

Chylomicron retention disease is an inherited disorder that impairs the body's ability to absorb fats, cholesterol, and certain vitamins from food, primarily affecting the gastrointestinal and nervous systems.

Description

Chylomicron retention disease begins in infancy or early childhood. Affected children have slow growth and weight gain, frequent (chronic) diarrhea, and foul-smelling stools (steatorrhea). They also have reduced blood cholesterol levels (hypocholesterolemia). Some individuals develop an abnormal buildup of fats in the liver called hepatic stenosis and can have an enlarged liver.

Other features develop later in childhood and often impair the function of the nervous system. Affected people may develop decreased reflexes (hyporeflexia) and a decreased ability to sense vibrations. Rarely, affected individuals have heart abnormalities or muscle wasting (amyotrophy).

Frequency

Chylomicron retention disease is a rare condition with approximately 50 cases described worldwide.

Causes

Mutations in the SAR1B gene cause chylomicron retention disease. The SAR1B gene provides instructions for making a protein needed for the transport of molecules called chylomicrons. During digestion, chylomicrons are formed within cells called enterocytes that line the intestines to absorb nutrients. Chylomicrons are necessary to absorb fat-soluble vitamins and carry fats and cholesterol from the small intestine into the lymphatic system.

SAR1B gene mutations cause the retention of chylomicrons within enterocytes and prevent their release into the bloodstream. This leads to severe malabsorption of dietary fats and fat-soluble vitamins, resulting in nutritional and developmental problems.

Inheritance

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.

Other Names for This Condition

  • Anderson disease
  • Anderson syndrome
  • CMRD
  • Hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells
  • Lipid transport defect of intestine

Frequently Asked Questions

Foul‑smelling, bulky stools that persist even after dietary changes, combined with poor weight gain, low serum cholesterol, and a history of failure to thrive are classic clues. A stool fat test (quantitative fecal fat) can confirm steatorrhea, and a low fasting cholesterol level supports the diagnosis of chylomicron retention disease.
Growth should be plotted on standardized percentile curves at every clinic visit. In addition to weight and height, periodic labs should include fasting total cholesterol, triglycerides, serum albumin, pre‑albumin, and levels of vitamins A, D, E, and K. Liver enzymes (AST, ALT, GGT) and imaging (ultrasound) are useful for detecting hepatic steatosis or enlargement. Adjustments to diet and supplementation are made based on these findings.
Chronic malabsorption can lead to liver steatosis, growth failure, and progressive neurological deficits such as hyporeflexia and vibration sense loss. Early and aggressive vitamin E supplementation has been shown to slow or halt neurological decline. Regular neuro‑physiological testing (e.g., nerve conduction studies) can detect early changes, and prompt adjustment of vitamin E dosing may improve outcomes. In severe cases, liver transplantation has been considered when hepatic dysfunction becomes refractory to medical management.
low‑fat diet that limits long‑chain triglycerides to about 20–30 g per day is recommended, while medium‑chain triglycerides (MCTs) are added because they are absorbed directly into the bloodstream. Fat‑soluble vitamins (A, D, E, K) should be supplemented orally or via intramuscular injections if absorption remains inadequate; vitamin E is especially important for preventing neurological decline. Regular monitoring of vitamin levels and liver function tests guides dose adjustments.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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