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Familial Chylomicronemia Syndrome
Author(s) -
SUGANDHAN SELVENDRAN,
KHANDPUR SUJAY,
SHARMA VINOD K.
Publication year - 2007
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2007.00415.x
Subject(s) - chylomicron , lipoprotein lipase , medicine , endocrinology , apolipoprotein b , apolipoprotein c2 , triglyceride , acute pancreatitis , lipoprotein , pancreatitis , very low density lipoprotein , cholesterol , adipose tissue
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.