Advances in diagnosis and potential therapeutic options for familial chylomicronemia syndrome. (1st February 2018)

• Record Type: Journal Article
• Authors: Benes, Lane B.; Brandt, Eric J.; Davidson, Michael H.
• Is Part Of: Expert opinion on orphan drugs. Volume 6:Number 2(2018)
• Page Start: 141
• Page End: 149
• Publication Date: 2018-02-01
• Subjects: Familial chylomicronemia syndrome -- hypertriglyceridemia -- acute pancreatitis -- lipoprotein lipase deficiency -- future therapies -- polygenic; Orphan drugs -- Periodicals; Rare diseases -- Periodicals; Chemotherapy -- Periodicals; 615.1
• DOI: 10.1080/21678707.2018.1419863
• Languages: English
• ISSNs: 2167-8707

Abstract

ABSTRACT: Introduction : Familial chylomicronemia syndrome (FCS) is a rare disorder in which there is a lack of chylomicron clearance from the plasma leading to severe hypertriglyceridemia. This is classically due to deficiency in lipoprotein lipase or one of its cofactors. There are many complications, including recurrent bouts of triglyceride-induced pancreatitis. Areas covered : Underlying genetic causes of FCS are reviewed, including discussion of monogenic versus polygenic forms. The complications, goals of treatment, currently available treatments and future treatments are discussed. A case of a male patient with polygenic FCS that includes heterozygous APOA5 deficiency is presented. Expert opinion : Additional effective treatment options are needed given the significant morbidity associated with FCS. Therapies with the ability to dramatically lower triglycerides and the risk of acute pancreatitis exist, however are minimally available to FCS patients at this time. Volanesorsen is one such therapy; there is optimism that it will have approval in the United States, Canada and Europe for FCS in the near future. Polygenic forms of FCS should be recognized and included in trials investigating new therapies as these patients are likely to receive similar benefits as those with a monogenic etiology.