Clinical and Genetic Characteristics of Korean Patients Diagnosed with Chronic Enteropathy Associated with <i>SLCO2A1</i> Gene: A KASID Multicenter Study
Hee Seung Hong, Jiwon Baek, Jae Cheol Park, Ho‐Su Lee, Dohoon Park, A-Ran Yoon, Soo Jung Park, Sung Noh Hong, Seong‐Joon Koh, Chang Kyun Lee, Bo‐In Lee, Sung Wook Hwang, Sang Hyoung Park, Seung‐Jae Myung, Suk‐Kyun Yang, Kyuyoung Song, Byong Duk Ye
Abstract
Background/Aims: gene. We aimed to investigate the clinical and genetic characteristics of Korean patients diagnosed with CEAS. Methods: mutations. We summarized the clinical characteristics of patients with confirmed CEAS. Results: ). 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.