Describe the etiology, pathophysiolgy and clinical features.
Deficiency of apolipoproteins (ApoB-48, ApoB-100)
Due to a mutation in the microsomal triglyceride transfer protein (MTTP) gene
Autosomal recessive disease
Deficiency of chylomicrons, VLDL, and LDL (hypolipoproteinemia)
Failure to thrive
Fat malabsorption → fat-soluble vitamin deficiency
Describe the diagnostics and treatment.
Extremely low levels of plasma cholesterol (< 50 mg/dL)
Acanthocytes in the blood
Other tests performed include complete blood count with differential, stool studies, and fasting lipid profile.
Confirmatory test: genetic testing to detect mutations in the MTTP gene
Intestinal biopsy: Histology may reveal lipid-laden enterocytes.
Vitamin E supplementation (high doses)
Reduced long-chain fatty acids intake