Login / Signup

Familial chylomicronemia syndrome due to a heterozygous deletion of the chromosome 8 treated with the apoCIII inhibitor volanesorsen: A case report.

Adrienn Tünnemann-TarrHubert ScharnaglJulius L KatzmannPaulina StürzebecherUlrich Laufs
Published in: Medicine (2021)
This case report shows that inhibition of apoCIII potently reduces serum triglycerides in patients with heterozygous monogenetic deletion of the lipoprotein lipase gene. Follow-up will show the effect on recurrent episodes of pancreatitis.
Keyphrases
  • case report
  • early onset
  • copy number
  • genome wide
  • dna methylation
  • low density lipoprotein
  • gene expression
  • transcription factor