Intractable Rare Dis Res. 2020;9(2):126-129. (DOI: 10.5582/irdr.2020.01029)

Food intolerance/malabsorption may occur in rare diseases

Schnedl WJ, Tillich M, Schenk M, Enko D, Mangge H


Sugars including lactose and fructose, or proteins (gluten), or biogenic amines (histamine), and combinations thereof may cause food intolerance/malabsorption. However, in usually asymptomatic patients with rare diseases, who present with functional, non-specific, non-allergic gastrointestinal (GI) complaints the etiologic factors of food intolerance/malabsorption need to be evaluated. We summarize patients with rare diseases, such as primary epiploic appendagitis, beta-thalassemias minor, Gullo syndrome and anomaly of the inferior vena cava, who presented functional, nonspecific, non-allergic GI complaints. As conclusion, these GI symptoms in patients with otherwise asymptomatic, rare diseases were due to fructose malabsorption, histamine-, lactose intolerance and Helicobacter pylori (H.p.) infection. A registered and experienced dietician was employed to design an individually-tailored diet which ensured effective treatments and H.p. infection was accordingly eradicated.

KEYWORDS: primary epiploic appendagitis; Gullo syndrome; beta-thalassemia minor; inferior vena cava anomaly; lactose; fructose, histamine

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