Chylomicronaemia—current diagnosis and future therapies

  title={Chylomicronaemia—current diagnosis and future therapies},
  author={Amanda J. Brahm and Robert A Hegele},
  journal={Nature Reviews Endocrinology},
This Review discusses new developments in understanding the basis of chylomicronaemia—a challenging metabolic disorder for which there is an unmet clinical need. Chylomicronaemia presents in two distinct primary forms. The first form is very rare monogenic early-onset chylomicronaemia, which presents in childhood or adolescence and is often caused by homozygous mutations in the gene encoding lipoprotein lipase (LPL), its cofactors apolipoprotein C-II or apolipoprotein A-V, the LPL chaperone… CONTINUE READING