[Autoimmune enteropathy in adults : A rare and difficult but relevant differential diagnosis of chronic diarrhea]

Autoimmune enteropathy (AIE) was originally believed to be a pediatric disease until there were increasing numbers of adult cases reported over the last 20 years. AIE is an autoimmune disease that manifests as severe chronic diarrhea.The histological hallmark is villous atrophy. Histology alone is not sufficiently sensitive and consistent. Four different histological patterns are known. There are many differential diagnoses to be considered relating to both histology and symptoms.We present the case of a young woman with fatal AIE and homozygous germline-mutation of the CLEC7A gene. The course of disease is documented in multiple intestinal biopsies, which show a morphological change over time.Histology and symptoms often resemble celiac disease. In order to recognize this rare disease early in its course there is a need for a special awareness among attending physicians and pathologists.