Clinical and Genetic Characteristics of Korean Patients Diagnosed with Chronic Enteropathy Associated with Gene: A KASID Multicenter Study.

BACKGROUND/AIMS: Chronic enteropathy associated with gene (CEAS), an inherited disease characterized by nonspecific intestinal ulcers, has emerged in the Japanese population via loss-of-function mutations in the gene. We aimed to investigate the clinical and genetic characteristics of Korean patients diagnosed with CEAS.

METHODS

From July 2018 to July 2021, we performed Sanger sequencing of the gene in 46 patients with chronic intestinal ulcers. CEAS was confirmed based on known mutations. We summarized the clinical characteristics of patients with confirmed CEAS.

RESULTS

Fourteen out of 46 patients (30.4%) had genetically confirmed CEAS, and two variants were detected (splicing site variant c.940+1G>A and nonsense mutation [p.R603X] in ). Twelve patients (85.7%) were females and the median age at diagnosis of CEAS was 44.5 years. All patients presented with abdominal pain, and 13 patients (92.9%) presented with anemia (median hemoglobin, 9.6 g/dL). Ten patients (71.4%) had hypoalbuminemia (median, 2.7 g/dL). The most commonly involved site was the ileum (13/14, 92.9%). Manifestations of primary hypertrophic osteoarthropathy (PHO), such as digital clubbing, pachydermia, and periostosis were observed in five patients (28.6%) and two male patients and one female patient satisfied all major PHO diagnostic criteria.

CONCLUSIONS

The clinical and genetic characteristics of Korean patients with confirmed CEAS were similar to those reported in the literature. CEAS should be considered in the differential diagnosis for patients with unexplained chronic nonspecific ulcers of the small intestine.