Chylomicron retention disease
Overview
Chylomicron retention disease is characterized by fat malabsorption, hypocholesterolemia, normal fasting triglycerides, and marked intestinal steatosis despite the presence of both plasma and intestinal apoprotein B. The defect remains unknown but presumably involves the synthesis or secretion of chylomicrons.
Symptoms
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.
Causes
The prescription of a low-fat diet supplemented with lipid soluble vitamins (A and E) and essential fatty acids, results in alleviation of the gastrointestinal symptoms and normal growth. CRD needs to be recognized early because of its adverse effects on growth and its potential for neurological complications
Resources
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