Gut Liver.  2022 Nov;16(6):942-951. 10.5009/gnl210415.

Clinical and Genetic Characteristics of Korean Patients Diagnosed with Chronic Enteropathy Associated with SLCO2A1 Gene: A KASID Multicenter Study

Affiliations
  • 1Department of Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • 2Department of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Seoul, Korea.
  • 3Inflammatory Bowel Disease Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • 4Department of Internal Medicine and Institute of Gastroenterology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
  • 5Division of Gastroenterology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • 6Department of Internal Medicine and Liver Research Institute, Seoul National University College of Medicine, Seoul, Korea.
  • 7Center for Crohn's and Colitis, Department of Gastroenterology, College of Medicine, Kyung Hee University, Seoul, Korea.
  • 8Division of Gastroenterology, Department of Internal Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
  • 9Digestive Diseases Research Center, University of Ulsan College of Medicine, Seoul, Korea.

Abstract

Background/Aims
Chronic enteropathy associated with SLCO2A1 gene (CEAS), an inherited disease characterized by nonspecific intestinal ulcers, has emerged in the Japanese population via loss-of-function mutations in the SLCO2A1 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 SLCO2A1 gene in 46 patients with chronic intestinal ulcers. CEAS was confirmed based on known SLCO2A1 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 SLCO2A1variants were detected (splicing site variant c.940+1G>A and nonsense mutation [p.R603X] in SLCO2A1). 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.

Keyword

SLCO2A1; Chronic enteropathy associated with SLCO2A1 gene; Korea
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