MECHANISMS OF DIARRHEA IN MYOTONIC-DYSTROPHY

Background Gastrointestinal (GI) symptoms are common in myotonic dystr ophy (MD), Diarrhoea is one of the more disabling of these GI complain ts. The mechanisms behind diarrhoea in MD have not previously been inv estigated systematically. Objective To elucidate the mechanisms behind diarrhoea in MD. Methods Twenty patients with MD and suffering from d iarrhoea were investigated in order to detect malabsorption (blood tes ts and faecal fat excretion) and bile acid malabsorption ([Se-75]selen ahomocholic acid-taurine (SeHCAT) retention) and to study intestinal m orphology (duodenal and rectal biopsies). Results Two patients had def iciency of folic acid and four showed reduced levels of pancreatic iso amylase, but none of them had steatorrhoea, Two out of eight patients had abnormal bile acid breath tests with normal SeHCAT, indicating sma ll bowel bacterial overgrowth and 12 displayed reduced SeHCAT retentio n, Duodenal biopsies were normal in eight patients and five out of nin e rectal biopsies displayed slight inflammation. Conclusions A possibl e mechanism of diarrhoea in MD could be identified in most of the pati ents. Bile acid malabsorption seems to be a frequent cause and can be treated successfully. (C) 1998 Lippincott-Raven Publishers.