Multiple small intestinal ulcers with SLCO2A1 and PLA2G4A mutation in a Chinese patient

Abstract

The diagnosis of multiple small intestinal ulcers is difficult, because the aetiologies of some rare diseases remain unknown. The term cryptogenic multifocal ulcerous stenosing enteritis (CMUSE), which is characterised by multiple unexplained ulcerations and strictures without systemic inflammation, is widely accepted in Korea and China [1,2]. The mutation of PLA2G4A gene causes CMUSE. In Japan, Umeno et al. reported a unique type of enteritis called chronic enteropathy, which is associated with SLCO2A1 gene (CEAS) [3,4].