Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations

OBJECTIVE - To further define clinical features associated With the syndrome of diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl-ester lipase (CEL) gene and to assess the effects of pancreatic enzyme substitution therapy. RESEARCH DESIGN AND METHODS - Nine patients with CEL gene mutation, exocrine deficiency, and diabetes were treated and followed for 30 months. RESULTS - Treatment improved symptoms in seven of nine patients. Exocrine and endocrine function assessed by fecal elastase and A1C were not affected, although fecal lipid excretion was reduced. Vitamin E was low in all patients but increased with treatment (P < 0.001 at 30 months) and improved in five subjects. A predominantly demyelinating neuropathy was seen in a majority of patients, and carpal tunnel syndrome was common. CONCLUSIONS - Pancreatic enzyme substitution alleviated symptoms and malabsorption and normalized Vitamin E levels. Glycerine control was not significantly affected. The CEL syndrome seems associated With a demyelinating neuropathology.