Down syndrome is overrepresented in Food Protein Induced Enterocolitis Syndrome.

RATIONALE: Food Protein Enterocolitis Syndrome (FPIES) is a non-IgE food allergy with an unknown prevalence and pathophysiology. Several children with FPIES have comorbid atopy, including eczema and food IgE sensitization, but only in two Japanese patients, a possible association with Down syndrome has been reported to date.

METHODS: A single-center report of children with acute FPIES who entered in our institutional follow-up protocol between January 2013 and June 2017.

RESULTS: Among 51 patients with FPIES (31 boys and 20 girls), eight (3 boys and 5 girls; 15.7%) were affected by Down syndrome. In our population, the FPIES triggers included milk, egg, fruit, fish, wheat, soy. Of patients with a Down phenotype, 7/8 reacted to cow’s milk (one of them even reacting also to beef), 1/8 to fish. Patients with Down syndrome experienced acute FPIES reactions with a severity degree comparable to that reported in other patients, ranging from mild-moderate (repetitive vomiting with less than three episodes of emesis and pallor) to severe (repetitive vomiting with more than three episodes of emesis, pallor, lethargy, dehydration) or very severe (severe symptoms plus cyanotic appearance and water/bloody diarrhea). Considering the subgroup of patients affected by FPIES from cow's milk, 26% had a Down phenotype.

CONCLUSIONS: A prevalence excess of Down syndrome among children with FPIES draws attention on the genetically determined T-, B-, and innate mechanisms of the disease. Interestingly, our patients with Down phenotype show peculiarly FPIES to cow’s milk proteins