Familial hyperchylomicronemia: Enzymatic and physiologic studies☆

Abstract A case of familial hyperchylomicronemia with low postheparin triglyceride lipase, normal monoglyceride hydrolase and normal postheparin hydrolytic activity is described. Chylomicron clearance was found to be markedly impaired during intravenous chylomicron infusion and oral fat tolerance studies. The turnover of very low density lipoproteins endogenously labeled with 3 H-glycerol was in the same range at that of cases of endogenous hypertriglyceridemia of similar magnitude. It is suggested that in this case chylomicrons and endogenous lipoproteins do not appear to share a common clearing mechanism.