5th February 2024

Lipoprotein disorders

Abetalipoproteinemia

This is also known as Bassen-Kornzweig syndrome. A microsomal triglyceride transfer protein deficiency causes it. It is seen most commonly in the Ashkenazi Jews (Eastern Europeans) population, often inherited in an autosomal recessive fashion. 

It results in lipid malabsorption, causing fat-soluble vitamin deficiency. Fat-soluble vitamins cannot be normally put into chylomicrons for transportation from the intestine to the liver. 

Symptoms include steatorrhea, abdominal distension, failure to thrive and malnutrition. Patients may also present with spinocerebellar degeneration (ataxia, areflexia, weakness), myopathy, pigmentary retinopathy, cataracts, and pale optic disc.

The blood film will show acanthocytosis. Serum apolipoprotein B and apo-LDL levels will be absent. Treatment includes fat-soluble vitamin supplementation.