Lipoprotein lipase deficiency

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Lipoprotein lipase deficiency (LPL deficiency, familial chylomicronemia, familial chylomicronaemia syndrome, hyperlipoproteinemia type I) has a phenotype where childhood patients present with:

  • Massive hypertriglyceridemia
  • Recurrent abdominal pain or pancreatitis
  • Hepatosplenomegaly
  • Marked xanthomata

The commonest cause are mutations of LDL but mutations of APOC2(causes hyperlipoproteinemia IB), APOA5, GPIHBP1(causes hyperlipoproteinemia ID) and LMF1 which code for proteins that are permissive to lipoprotein lipase function can also cause the syndrome[1].