Roundtable discussion: Familial chylomicronemia syndrome: Diagnosis and management

William Virgil Brown, Ira Goldberg, Barton Duell, Daniel Gaudet

Research output: Contribution to journalReview articlepeer-review

17 Scopus citations


Plasma triglyceride concentrations are normally below 150 mg/dL in the fasting state. However, these lipids can reach values of several thousand mg/dL. Elevations in this range are due to a massive retention of chylomicrons and usually result from multiple genetic variants with superimposed influences such as diabetes and immune disorders. Less commonly, major gene defects in lipoprotein metabolism can be the cause. These may present soon after birth with strong evidence of familial penetrance. The causes of this syndrome have been discussed in a Roundtable published in the most recent issue of this Journal. The polygenic etiology may also have a familial presentation with similar clinical import. The diagnosis and management of these disorders is of importance since they can lead to critical clinical syndromes including death from acute hemorrhagic pancreatitis. The chronic management requires a dedicated medical team and a patient committed to an effective regimen. We are joined in this discussion by Dr P. Barton Duell, University of Oregon Health Sciences Center, and Dr Daniel Gaudet of the Université de Montreal, Montreal, Quebec. All have had extensive personal experience in the diagnosis and management of patients with familial chylomicronemia. This Roundtable was recorded on November 11, 2017, during a meeting of the National Lipid Association in New Orleans, Louisiana.

Original languageEnglish (US)
Pages (from-to)254-263
Number of pages10
JournalJournal of clinical lipidology
Issue number2
StatePublished - Mar 1 2018


  • Apolipoprotein
  • Clinical management
  • Hyperchylomicronemia
  • Lipoprotein lipase
  • Triglycerides
  • Volasenorsen

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Nutrition and Dietetics
  • Cardiology and Cardiovascular Medicine


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