Autoimmune enteropathy and villous atrophy in adults

BACKGROUND: Autoimmune enteropathy is a condition described in children and characterised by villous atropy, which is unresponsive to any dietary restrictions, and by the presence of enterocyte autoantibodies. We report two adult patients who fulfilled at the criteria for the diagnosis of this disorder. METHODS: Over the past 5 years we have seen four adult patients (all women, median age 51.5 (range 38-64) years) with subtotal villous atrophy, which was unresponsive to a gluten-free diet. The patients were HLA-DQ2 positive. IgA antigliadin and antiendomysial antibodies were not found in any of the patients. We did an indirect immunofluorescence search for enterocyte autoantibodies on monkey jejunum and for other autoantibodies for all four patients. FINDINGS: Of the four patients, two were positive for enterocyte autoantibodies and one of these two patients was positive for antiactin, antiparietal cell, and antithyroid microsomal autoantibodies. INTERPRETATION: To the best of our knowledge the two patients affected by severe enteropathy, who had never responsed to any exclusion diet, and who were positive for enterocyte autoantibodies are the first cases of autoimmune enteropathy described in adults. We propose that adult patients whose disorders are unresponsive to a gluten-free diet should be tested for enterocyte autoantibodies.