A man in his fifties with chronic diarrhoea and weight loss

Watery diarrhoea coupled with weight loss is a serious condition with many potential causes. We present a possibly underappreciated cause which usually responds well to treatment; left untreated it may have a severe course.

A man in his fifties with known coronary and cerebrovascular disease was admitted for watery diarrhoea. Prerenal kidney failure occurred on the same day as the initial colonoscopy. The next day he suffered a stroke. He was anticoagulated and recovered within days. In the following months his state of malabsorption continued, with ultimately 50 % weight loss (BMI 14.7) and severe electrolyte disturbances. Intravenous electrolyte solutions and nutrition were administered. Oedema and aphthous duodenal lesions were the only endoscopic findings. Microscopic findings of total villus atrophy in all sampled sites in the small intestine, including the ileum, were striking. There were inflammatory cells in lamina propria, apoptotic cells and disappearance of goblet cells. Coeliac disease was ruled out by serology and HLA typing.

A final diagnosis of autoimmune enteropathy was made, based on exclusion of other intestinal and systemic diseases. Treatment with infliximab intravenously and budesonide in an open capsule regime was successful.