title: Familial chylomicronemia syndrome.
abstract: Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase (LPL) or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. It manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicron levels. We report two siblings with this rare disorder and review the literature.
authors.affiliation: Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Selvendran
authors.initials: S
authors.lastname: Sugandhan
authors.forename: Sujay
authors.initials: S
authors.lastname: Khandpur
authors.forename: Vinod K
authors.initials: VK
authors.lastname: Sharma
mesh_terms: D001056:Apolipoproteins C / Q000172:deficiency; D002648:Child; D002675:Child, Preschool; D002914:Chylomicrons / Q000097:blood*; D003241:Consanguinity; D005260:Female; D006529:Hepatomegaly / Q000235:genetics; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000175:diagnosis*; D007223:Infant; D008071:Lipoprotein Lipase / Q000172:deficiency; D008297:Male; D035781:Siblings; D014973:Xanthomatosis / Q000235:genetics*
chemical_list: D001056:Apolipoproteins C; D002914:Chylomicrons; D008071:Lipoprotein Lipase