Familial chylomicronemia syndrome.
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.
Sugandhan
Selvendran
S
Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.
Khandpur
Sujay
S
Sharma
Vinod K
VK
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*
D001056:Apolipoproteins C; D002914:Chylomicrons; D008071:Lipoprotein Lipase