Neurological Features and Enzyme Therapy in Patients With Endocrine and Exocrine Pancreas Dysfunction Due to CEL Mutations

  1. Mette Vesterhus, MD12,
  2. Helge Ræder, MD, PHD12,
  3. Harald Aurlien, MD3,
  4. Clara G. Gjesdal, MD, PHD4,
  5. Cecilie Bredrup, MD5,
  6. Pål I. Holm, MD4,
  7. Anders Molven, PHD6,
  8. Laurence Bindoff, MD, PHD13,
  9. Arnold Berstad, MD, PHD4 and
  10. Pål R. Njølstad, MD, PHD12
  1. 1Department of Clinical Medicine, University of Bergen, Bergen, Norway
  2. 2Department of Pediatrics, Haukeland University Hospital, Bergen, Norway
  3. 3Department of Neurology, Haukeland University Hospital, Bergen, Norway
  4. 4Institute of Medicine, University of Bergen, Bergen, Norway
  5. 5Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway
  6. 6Gade Institute, University of Bergen, Bergen, Norway
  1. Corresponding author: Pål R. Njølstad, pal.njolstad{at}uib.no

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.

Footnotes

  • Published ahead of print at http://care.diabetesjournals.org on 10 June 2008.

    Clinical trial reg. no. ISRCTN35040926, clinicaltrials.gov.

    Readers may use this article as long as the work is properly cited, the use is educational and not for profit, and the work is not altered. See http://creativecommons.org/licenses/by-nc-nd/3.0/ for details.

    The costs of publication of this article were defrayed in part by the payment of page charges. This article must therefore be hereby marked “advertisement” in accordance with 18 U.S.C Section 1734 solely to indicate this fact.

    • Accepted May 28, 2008.
    • Received December 5, 2007.
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  1. Published online before print June 10, 2008, doi: 10.2337/dc07-2217 Diabetes Care September 2008 vol. 31 no. 9 1738-1740
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