Isolated congenital lipase-colipase deficiency

Area of Science:

• Gastroenterology
• Biochemistry
• Pediatrics

Background:

• Pancreatic lipase and colipase are crucial for dietary fat digestion.
• Deficiencies in these enzymes can lead to malabsorption.
• Congenital deficiencies are rare, especially combined forms.

Observation:

• A 5-year-old child presented with a lifelong history of steatorrhea (oily stools).
• Diagnostic tests revealed isolated pancreatic lipase and colipase deficiency, with enzyme activities below 2% of normal.
• The patient exhibited a baseline fat absorption coefficient of 50%.

Findings:

• Despite a complete lack of pancreatic lipase and colipase, the child maintained partial fat absorption.
• Pancreatic enzyme replacement therapy dramatically increased the fat absorption coefficient to 82%.

Implications:

• This case is the first documented instance of congenital combined pancreatic lipase and colipase deficiency.
• It underscores the critical role of both lipase and colipase in efficient fat digestion.
• Findings suggest potential alternative pathways or residual function contributing to fat absorption in severe deficiency states.