Diarrea grave por enteropatía autoinmune: tratamiento y evolución

Autoimmune enteropathy (AIE) is a rare cause of severe diarrhoea associated with immune dysregulation and characterised by the presence of antibodies and autoimmune disorders. We performed a retrospective review of the cases of AIE diagnosed in our hospital between 1975 and 2015. A total of 8 patients received the diagnosis during this period. Seventy-five percent were male. The age of onset was less than 3 months in five patients (62.5%), 15 months in one (12.5%), 2 years in one (12.5%) and 7 years in one (12.5%). The most frequent symptoms were severe mixed-type diarrhoea (exudative/secretory), with bloody stools in 4 patients, weight faltering, found in 100% of the patients, and vomiting, present in 5 (62.5%). Serum albumin levels were elevated in all patients, and faecal calprotectin in every patient in whom it was measured (62.5%). Four patients had decreased levels of IgG and one had selective IgA deficiency. Three patients tested positive for anti-enterocyte antibodies. The endoscopic examination revealed an atrophic gastric mucosa with erosions in 75%, granularity and friability of the duodenal mucosa in 100% (Fig. 1), and a friable colonic mucosa with loss of the normal vascular pattern in 62.5%. The histological examination revealed atrophic gastritis, villous atrophy of variable severity with crypt hyperplasia and mononuclear cell infiltration in the duodenum (Fig. 2), and ulcerations in the colon. Three patients had mutations in the FOXP3 gene (IPEX syndrome), and one in the CTLA4 and caspase 10 genes (autoimmune lymphoproliferative syndrome). The autoimmune comorbidities found in these patients were: nephropathy in 2, hepatitis in 1, thyroiditis in 2, cytopaenia in 1 and type 1 diabetes mellitus in 1. All patients received steroid therapy, with a partial and transient