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Isolated congenital lipase-colipase deficiency

F K Ghishan, J R Moran, P R Durie

    Gastroenterology
    |June 1, 1984
    PubMed

    Insights

    This study reports the first case of congenital combined pancreatic lipase and colipase deficiency in a child with oily stools. Enzyme supplementation significantly improved fat absorption, highlighting the importance of these enzymes in digestion.

    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.

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