Familial chylomicronemia in children: clinical cases

Cases of familial chylomicronemia or hyperlipoproteinemia type I, an autosomal recessive disorder associated with impaired functional activity of lipoprotein lipase, are rarely encountered in pediatric clinical practice. This disorder is characterized by hypertriglyceridemia due to elevated chylomicrons. Patients present with recurrent abdominal pain, episodes of acute pancreatitis, erosive skin xanthomas, and lipemic (“milky white”) plasma/serum. Two clinical cases of this rare disorder are presented.