Isolated co-lipase deficiency in two brothers

Area of Science:

• Gastroenterology
• Human Genetics
• Biochemistry

Background:

• Pancreatic co-lipase is essential for efficient dietary fat digestion.
• Genetic defects in pancreatic enzymes can lead to malabsorption disorders.
• Isolated co-lipase deficiency is a rare cause of steatorrhoea.

Observation:

• Two brothers presented with steatorrhoea and loose stools at 5-6 years of age.
• Exocrine pancreatic function tests revealed normal levels of lipase, amylase, trypsin, and chymotrypsin, but deficient co-lipase.
• This indicated an isolated pancreatic co-lipase deficiency.

Findings:

• Intraduodenal administration of purified co-lipase significantly improved fat digestion, as evidenced by the triolein breath test.
• Treatment with enteric-coated pancreatic enzyme replacement therapy reduced steatorrhoea in the affected individuals.

Implications:

• This case highlights the critical role of co-lipase in fat digestion.
• It demonstrates that isolated co-lipase deficiency is a treatable cause of pediatric steatorrhoea.
• Genetic analysis could aid in diagnosing similar rare pancreatic enzyme deficiencies.