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A 1-month-old infant with chylomicronemia due to GPIHBP1 gene mutation treated by plasmapheresis

 Mo Kyung Jung  ;  Juhyun Jin  ;  Hyun Ok Kim  ;  Ahreum Kwon  ;  Hyun Wook Chae  ;  Seok Jin Kang  ;  Duk Hee Kim  ;  Ho-Seong Kim 
 Annals of Pediatric Endocrinology & Metabolism, Vol.22(1) : 68-71, 2017 
Journal Title
 Annals of Pediatric Endocrinology & Metabolism 
Issue Date
Chylomicronemia ; GPIHBP1 ; Plasmapheresis
Chylomicronemia is a severe type of hypertriglyceridemia characterized by chylomicron accumulation that arises from a genetic defect in intravascular lipolysis. It requires urgent and proper management, because serious cases can be accompanied by pancreatic necrosis or persistent multiple organ failure. We present the case of a 1-month-old infant with chylomicronemia treated by plasmapheresis. His chylomicronemia was discovered incidentally when lactescent plasma was noticed during routine blood sampling during a hospital admission for fever and irritability. Laboratory investigation revealed marked triglyceridemia (>5,000 mg/dL) with high chylomicron levels. We therefore decided to perform a therapeutic plasmapheresis to prevent acute pancreatitis. Sequence analysis revealed a homozygous novel mutation in exon 4 of GPIHBP1: c.476delG (p.Gly159Alafs). Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) stabilizes the binding of chylomicrons near lipoprotein lipase and supports lipolysis. Mutations of GPIHBP1, the most recently discovered gene, can lead to severe hyperlipidemia and are known to make up only 2% of the monogenic mutations associated with chylomicronemia. The patient maintains mild hypertriglyceridemia without rebound after single plasmapheresis and maintenance fibrate medication so far. Here, we report an infant with chylomicronemia due to GPIHBP1 mutation, successfully treated by plasmapheresis.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Kang, Seok Jin(강석진)
Kwon, Ah Reum(권아름) ORCID logo https://orcid.org/0000-0002-9692-2135
Kim, Hyun Ok(김현옥) ORCID logo https://orcid.org/0000-0002-4964-1963
Kim, Ho Seong(김호성) ORCID logo https://orcid.org/0000-0003-1135-099X
Jung, Mo Kyung(정모경)
Jin, Ju Hyun(진주현)
Chae, Hyun Wook(채현욱) ORCID logo https://orcid.org/0000-0001-5016-8539
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