Hereditary Fructose Intolerance and Celiac Disease: A Novel Genetic Association

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Background & Aims:

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


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


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).


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

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