Familial Chylomicronemia Syndrome Presenting With Acute Necrotizing Pancreatitis in a Five Month Infant

Amirmasoud Borghei,Mahba Azizi

doi:10.3126/jnps.v30i2.2431

Abstract

Familial chylomicronemia syndrome (FCS) is a rare disease characterized by severe fastinghypertriglyceridemia and chylomicronemia, which is inherited in an autosomal recessive manner. It isarisen from apolipoprotein C-ll deficiency or Lipoprotein Lipase(LPL) Deficiency.We report a 5-month-oldmale infant FCS presenting with acute abdominal pain and post surgical diagnosis of acute necrotizingpancreatitis.Key words: Pancreatitis; chylomicronemia; hyperlipidemia; lipoprotein lipase.DOI: 10.3126/jnps.v30i2.2431J. Nepal Paediatr. Soc. May-August, 2010 Vol 30(2) 110-112

Highlights

Familial chylomicronemia syndrome is a genetic defect similar to familial hypercholestrolemia, which influences cleaning of lipoproteins containing apo-B
We describe a 5 month-old male infant with Familial chylomicronemia syndrome (FCS) presenting with acute abdomen due to severe necrotizing pancreatitis
After giving Fresh Frozen Plasma (FFP) to the patient, symptoms and triglyceride levels reduced.The patient, was being treated with fat-restricted diet along with fat-soluble vitamins

Summary

Introduction

Familial chylomicronemia syndrome is a genetic defect similar to familial hypercholestrolemia, which influences cleaning of lipoproteins containing apo-B. Contrary to apo c-II deficiency or lack of apo c-II, chylomicron can be created in the case of LPL deficiency, leading to less increase in triglyceride of serum. The disease usually appears in infancy with episodes of acute pancreatitis. We describe a 5 month-old male infant with FCS presenting with acute abdomen due to severe necrotizing pancreatitis.

Results

Conclusion