Hereditary fructose intolerance and celiac disease: a novel genetic association

Clin Gastroenterol Hepatol. 2006 May;4(5):635-8. doi: 10.1016/j.cgh.2005.12.004.

Abstract

Background & aims: Celiac disease (CD) has been associated with several genetic disorders, but has not been associated with hereditary fructose intolerance (HFI).

Methods: We identified CD in 4 female patients affected by HFI from among 38 Italian HFI patients.

Results: Three of these patients were children in whom the CD-associated signs were hypertransaminasemia, failure to thrive, low weight, and short stature, whereas the adult patient had protracted diarrhea notwithstanding a fructose-free diet. The incidence of CD in our group of HFI patients was higher (>10%) than in the general population (1%-3%) (P<.02).

Conclusions: The possibility of an association between these 2 gastrointestinal disorders is important, particularly in the management of HFI patients with persisting symptoms.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age Factors
  • Celiac Disease / complications*
  • Celiac Disease / diagnosis*
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Fructose Intolerance / complications*
  • Fructose Intolerance / diagnosis
  • Fructose Intolerance / genetics*
  • Fructose Metabolism, Inborn Errors / complications
  • Fructose Metabolism, Inborn Errors / diagnosis
  • Fructose Metabolism, Inborn Errors / genetics
  • Genetic Predisposition to Disease*
  • HLA-DQ Antigens / genetics
  • HLA-DR Antigens / genetics
  • Humans
  • Incidence
  • Italy / epidemiology
  • Mutation*
  • Pedigree
  • Retrospective Studies
  • Risk Assessment
  • Sampling Studies
  • Severity of Illness Index

Substances

  • HLA-DQ Antigens
  • HLA-DR Antigens