[MIM 246 700](Chylomicron retention disease)

Hypobetalipoproteinemia. Autosomal recessive transmission of mutations of the SAR1B gene (SARA2; 5q31.1) coding for a protein (COPII) implicated in the assembly and secretion, into the lymphatic system of the chylomicrons by the enterocytes overloaded  with dietary lipids. The later are fat-loaded and appear milky at endoscopy. Characterized by the absence of apolipoprotein B-48 (ApoB-48) that normally ensures the intestinal transport of lipids.

Clinical presentation: steatorrhea, growth delay, hypoalbuminemia, hypocholesterolemia, hypo β-lipoproteinemia, fat-soluble vitamin deficiency.

Treatment: diet poor in long chain fatty acid, ADEK vitamins, regular IV administration of a lipid solution 

Anesthetic implications:

in the presence of hypoalbuminemia, increased effect of any drug strongly fixed to plasma proteins. Possible deficiency in vitamins A, D, E and K.

References:

-        Ben Ameur S, Aloulou H, Jlidi N, Kamoun F et al.
Chylomicron retention disease : a rare cause of chronic diarrhea.
Arch Pédiatr 2016; 23:735-7

Updated: November 2019