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Published on: November 28, 2016
A 1-month-old infant with chylomicronemia due to GPIHBP1 gene mutation treated by plasmapheresis
Mo Kyung Jung1, Juhyun Jin1, Hyun Ok Kim2
1Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.
Insights
A novel GPIHBP1 gene mutation caused severe chylomicronemia in an infant. Therapeutic plasmapheresis effectively managed this condition, preventing complications like pancreatitis.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Chylomicronemia, a severe hypertriglyceridemia, results from impaired intravascular lipolysis.
- Genetic defects in lipolysis can lead to dangerous chylomicron accumulation, risking pancreatitis and organ failure.
- Early diagnosis and management are critical for severe chylomicronemia cases.
Purpose of the Study:
- To report a case of chylomicronemia in an infant caused by a novel GPIHBP1 mutation.
- To demonstrate the efficacy of therapeutic plasmapheresis in managing severe chylomicronemia in a pediatric patient.
- To highlight the role of GPIHBP1 in chylomicron metabolism and its association with severe hyperlipidemia.
Main Methods:
- Case presentation of a 1-month-old infant with incidentally discovered lactescent plasma and severe hypertriglyceridemia (>5,000 mg/dL).
- Genetic analysis revealing a homozygous novel mutation (c.476delG) in the GPIHBP1 gene.
- Therapeutic plasmapheresis performed to reduce triglyceride levels and prevent acute pancreatitis.
Main Results:
- The infant presented with severe chylomicronemia due to a novel homozygous GPIHBP1 mutation.
- A single session of therapeutic plasmapheresis successfully reduced triglyceride levels.
- The patient achieved sustained mild hypertriglyceridemia with fibrate medication post-plasmapheresis.
Conclusions:
- Novel mutations in GPIHBP1 can cause severe chylomicronemia in infants.
- Therapeutic plasmapheresis is an effective and urgent treatment for severe chylomicronemia, preventing serious complications.
- This case underscores the importance of genetic investigation in pediatric hyperlipidemia and the successful application of plasmapheresis.
Abstract:
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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