A Case of Familial Chylomicronemia Syndrome Caused by a Novel Homozygous GPIHBP1 Mutation Successfully Treated with the Selective PPARα Modulator Pemafibrate.
Tomoko Otsuki, Yumi Chung, Yusuke Kawachi et al.
✦ AI-curated · Sources linked
Case in brief
A 47-year-old woman with a history of familial chylomicronemia syndrome presented with severe epigastric pain due to acute pancreatitis from extreme hypertriglyceridemia. Genetic analysis revealed a novel homozygous mutation in the GPIHBP1 gene. After initial management with fasting and intravenous fluids, her triglyceride levels were successfully controlled with dietary fat restriction and the selective PPARα modulator pemafibrate.
What made this case unusual
The case highlights a novel homozygous frameshift mutation in the GPIHBP1 gene, which is exceedingly rare and has not been previously reported.
Diagnostic / clinical pearl
Clinicians should consider GPIHBP1 deficiency in patients with severe hypertriglyceridemia and pancreatitis, especially when genetic testing reveals novel mutations.
Why it matters
This case underscores the importance of early diagnosis and strict lipid management in preventing complications like pancreatitis in patients with genetic lipid disorders.