Food intolerance/malabsorption may occur in rare diseases

Area of Science:

• Gastroenterology
• Rare Diseases
• Clinical Nutrition

Background:

• Food intolerances (lactose, fructose, histamine) and proteins (gluten) can cause malabsorption.
• Patients with rare diseases often present with non-specific, functional gastrointestinal complaints.
• Identifying the etiology of these GI symptoms is crucial for effective management.

Purpose of the Study:

• To evaluate the causes of food intolerance/malabsorption in patients with rare diseases presenting with functional GI complaints.
• To identify specific dietary triggers and infections contributing to GI symptoms in this cohort.
• To outline an integrated management approach including dietary modification and infection eradication.

Main Methods:

• Case series review of patients with rare diseases and functional GI complaints.
• Diagnostic evaluation for common food intolerances (fructose, lactose, histamine) and Helicobacter pylori infection.
• Development of individually-tailored diets by a registered dietitian.
• Eradication therapy for diagnosed H. pylori infections.

Main Results:

• Patients with rare diseases (e.g., primary epiploic appendagitis, beta-thalassemias minor, Gullo syndrome, IVC anomaly) experienced functional GI symptoms.
• Identified causes included fructose malabsorption, histamine intolerance, lactose intolerance, and H. pylori infection.
• Individually-tailored diets and H. pylori eradication led to effective treatment.

Conclusions:

• Functional GI symptoms in patients with rare diseases can be attributed to specific food intolerances and infections.
• A comprehensive diagnostic approach is necessary to uncover these underlying causes.
• Personalized dietary interventions and targeted infection treatment are effective management strategies.