Roundtable on etiology of familial chylomicronemia syndrome

Published:December 29, 2017DOI:
      Dr Brown: The familial chylomicronemia syndrome (FCS) can be a devastating problem for the patient and a frustrating problem for clinical lipidologists attempting to control the severe hypertriglyceridemia that is the major therapeutic target in such patients. The marked elevation of plasma triglycerides (TGs) consisting primarily of chylomicron lipids can result from a few well-described major gene defects. It can also occur in families because there are other factors that derive from summative effects of minor gene variants as well as the secondary impact of common metabolic disorders such as diabetes mellitus. It is important for a physician to gain an understanding of these etiologic factors if the best management plan is to be developed for these patients. This Roundtable Discussion will focus on our current knowledge of these causative factors. An upcoming Roundtable will provide a discussion on clinical management of FCS. In the current Roundtable, we have 3 experts, who have spent years studying TG transport and the variant genes that underlie FCS. These include Drs Daniel Gaudet of the Université de Montreal, Chicoutimi, Quebec; Ira Goldberg of the Langone-NYU Medical Center in New York, and Rob A. Hegele of the Robarts Research Institute, London, Ontario.
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