Neurological Features and Enzyme Therapy in Patients with Endocrine and Exocrine Pancreas Dysfunction Due to CEL Mutations
- Mette Vesterhus, MD1,2,
- Helge Ræder, MD, PhD1,2,
- Harald Aurlien, MD3,
- Clara G. Gjesdal, MD, PhD4,
- Cecilie Bredrup, MD5,
- Pål I. Holm, MD4,
- Anders Molven, PhD6,
- Laurence Bindoff, MD, PhD1,3,
- Arnold Berstad, MD, PhD4 and
- Pål R. Njølstad, MD, PhD (pal.njolstad{at}uib.no)1,2
- From the 1Department of Clinical Medicine, University of Bergen, Bergen, Norway
- 2Department of Pediatrics, Haukeland University Hospital, Bergen, Norway
- 3Department of Neurology, Haukeland University Hospital, Bergen, Norway
- 4Institute of Medicine, University of Bergen, Bergen, Norway
- 5Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway
- 6The Gade Institute, University of Bergen, Bergen, Norway
Abstract
Objective To define further clinical features associated with the syndrome of diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl-ester lipase (CEL) gene and assess the effects of pancreatic enzyme substitution therapy.
Research Design and Methods Nine patients with CEL mutation, exocrine deficiency and diabetes were treated and followed for 30 months.
Results Treatment improved symptoms in 7/9 patients. Exocrine and endocrine function assessed by fecal elastase and HbA1c were not influenced, 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 frequent.
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.
Footnotes
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- Received December 5, 2007.
- Accepted May 28, 2008.
- Copyright © American Diabetes Association
