Severe pancreatic dysfunction but compensated nutritional status in monogenic pancreatic disease caused by carboxyl-ester lipase mutations.

OBJECTIVES: The impact of pancreatic dysfunction in several diseases of the pancreas, including chronic pancreatitis and cystic fibrosis, is obscured by concomitant extra-pancreatic disease. Carboxyl-ester lipase-maturity-onset diabetes in the young (CEL-MODY) is a monogenic, highly penetrant and progressive pancreatic disease with no known primary extrapancreatic manifestations. It is characterized by low fecal elastase, steatorrhea, and development of diabetes mellitus. We sought to determine the nature of the exocrine dysfunction in CEL-MODY and relate the findings to clinical parameters of malnutrition.
METHODS: We examined CEL-MODY patients and control subjects by rapid, endoscopic secretin test and dynamic magnetic resonance imaging of the pancreas. The findings were related to the subjects' clinical status.
RESULTS: The CEL-MODY patients displayed severely reduced acinar function and moderately reduced ductal function of the pancreas compared with control subjects. Surprisingly, CEL-MODY patients did not have clinical or biochemical signs of malnutrition, except for subnormal levels of vitamin E. Vitamin E levels seemed to be directly related to pancreatic acinar function.
CONCLUSIONS: Pancreatic exocrine dysfunction in CEL-MODY is associated with severely reduced acinar and moderately reduced ductal dysfunction. Despite severely reduced exocrine pancreatic function, CEL-MODY patients revealed only minor signs of malnutrition.