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(chylomicronemia syndrome)
138 results
  • GPIHBP1 autoantibody syndrome during interferon β1a treatment. [Journal Article]
  • JCJ Clin Lipidol 2019 Jan - Feb; 13(1):62-69
  • Eguchi J, Miyashita K, … Beigneux AP
  • CONCLUSIONS: The appearance of GPIHBP1 autoantibodies during IFN β1a therapy caused chylomicronemia. The GPIHBP1 autoantibodies disappeared when the IFN β1a therapy was stopped, and the plasma triglyceride levels fell within the normal range.
  • Severe hypertriglyceridemia is primarily polygenic. [Journal Article]
  • JCJ Clin Lipidol 2019 Jan - Feb; 13(1):80-88
  • Dron JS, Wang J, … Hegele RA
  • CONCLUSIONS: We report the most in-depth, systematic evaluation of genetic determinants of severe HTG to date. The predominant feature was an extreme accumulation of common variants (high polygenic risk score), whereas a substantial proportion of patients also carried heterozygous rare variants. Overall, 46.3% of patients had polygenic HTG, whereas only 1.1% had biallelic or homozygous monogenic HTG.
  • Characterizing familial chylomicronemia syndrome: Baseline data of the APPROACH study. [Journal Article]
  • JCJ Clin Lipidol 2018 Sep - Oct; 12(5):1234-1243.e5
  • Blom DJ, O'Dea L, … Witztum JL
  • CONCLUSIONS: Our data emphasize the severe hypertriglyceridemia characteristic of FCS patients despite restrictive low-fat diets and frequent use of existing hypolipemic therapies. Acute pancreatitis and recurrent acute pancreatitis are frequent complications of FCS. Diagnosis at an older age suggests likely underdiagnosis and underappreciation of this rare disorder.
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