A 1-month-old infant with chylomicronemia due to GPIHBP1 gene mutation treated by plasmapheresis
Open accessAbstract
Case reportChylomicronemia 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 lipoproteinbinding 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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Acute and recurrent episodes of pancreatitis are major complications of familial chylomicronemia syndrome and can occur in infancy as early as 30 days after birth.
“Acute and recurrent episodes of pancreatitis are the major complications of familial chylomicronemia syndrome and have been documented to occur in infancy as early as 30 days after birth. 13”
From Olezarsen, Acute Pancreatitis, and Familial Chylomicronemia Syndrome (2024) · cites this paper as [13]
The Introduction identifies pancreatitis as the most serious manifestation of chylomicronemia. But the Abstract says the 1-month-old infant received plasmapheresis to prevent acute pancreatitis; it does not document an episode at that age. The claim that pancreatitis has occurred as early as 30 days is therefore unsupported by this paper. Page numbers were not provided in our copy. (LLM, conf=0.88)
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Olezarsen, Acute Pancreatitis, and Familial Chylomicronemia Syndrome
Stroes, E. S. G., Alexander, V. J., Karwatowska-Prokopczuk, E., Hegele, R. A., Arca, M., Ballantyne, C. M., Soran, H., Prohaska, T. A., Xia, S., Ginsberg, H. N., et al. (2024) · New England Journal of Medicine · doi:10.1056/nejmoa2400201 · Cited by 271 · see citing works
- Authors
- Jung, M. K., Jin, J., Kim, H. O., Kwon, A., Chae, H. W., Kang, S. J., Kim, D. H., & Kim, H.-S.
- Affiliations
- Yonsei University (KR)
- Sowha Children's Hospital, Seoul, Korea.
- Corresponding author
- Kim, Ho-Seong
- Venue
- Annals of Pediatric Endocrinology & Metabolism
- Published
- 2017
- Volume
- 22
- Issue
- 1
- Pages
- 68
- ISSN
- 2287-1012 (ISSN-L)
- 2287-1292
- PMC
- PMC5401827
- OpenAlex
- W2606228122
- Cited by
- 14
- References
- 22
- Citations by year
- 2024: 5 · 2023: 3 · 2022: 2 · 2020: 1 · 2019: 1 · 2018: 2
- FWCI
- 0.85
- Type
- journal article
- Language
- en
- Open access
- diamond
- doi.org
- Licence
- Locations
- Annals of Pediatric Endocrinology & Metabolism (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- YUHSpace (Yonsei University Medical Library) (submittedVersion, cc-by-nc-nd)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lymphatic Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- chylomicronemia, GPIHBP1, plasmapheresis, hypertriglyceridemia, infants, novel mutations, lipoprotein lipase, acute pancreatitis prevention, fibrate therapy
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