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

Diabetes Care. 2008 Sep;31(9):1738-40. doi: 10.2337/dc07-2217. Epub 2008 Jun 10.

Abstract

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. Glycemic control was not significantly affected. The CEL syndrome seems associated with a demyelinating neuropathology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Demyelinating Diseases / enzymology
  • Demyelinating Diseases / genetics*
  • Enzyme Therapy*
  • Feces / enzymology
  • Glycated Hemoglobin A / metabolism
  • Humans
  • Islets of Langerhans / pathology*
  • Lipase / genetics*
  • Lipase / therapeutic use*
  • Pancreas / enzymology*
  • Pancreas / pathology
  • Pancreatic Diseases / blood
  • Pancreatic Diseases / drug therapy
  • Pancreatic Diseases / enzymology
  • Pancreatic Diseases / genetics*
  • Pancreatic Elastase / deficiency
  • Pancreatic Elastase / metabolism
  • Vitamin E / blood

Substances

  • Glycated Hemoglobin A
  • Vitamin E
  • CEL protein, human
  • Lipase
  • Pancreatic Elastase