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


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 SLCO2A1 variants 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.

SUBMITTER: Hong HS 

PROVIDER: S-EPMC9668493 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature

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Publications

Clinical and Genetic Characteristics of Korean Patients Diagnosed with Chronic Enteropathy Associated with <i>SLCO2A1</i> Gene: A KASID Multicenter Study.

Hong Hee Seung HS   Baek Jiwon J   Park Jae Chul JC   Lee Ho-Su HS   Park Dohoon D   Yoon A-Ran AR   Park Soo Jung SJ   Hong Sung Noh SN   Koh Seong-Joon SJ   Lee Chang Kyun CK   Lee Bo-In BI   Hwang Sung Wook SW   Park Sang Hyoung SH   Myung Seung-Jae SJ   Yang Suk-Kyun SK   Song Kyuyoung K   Ye Byong Duk BD  

Gut and liver 20220525 6


<h4>Background/aims</h4>Chronic enteropathy associated with <i>SLCO2A1</i> gene (CEAS), an inherited disease characterized by nonspecific intestinal ulcers, has emerged in the Japanese population via loss-of-function mutations in the <i>SLCO2A1</i> gene. We aimed to investigate the clinical and genetic characteristics of Korean patients diagnosed with CEAS.<h4>Methods</h4>From July 2018 to July 2021, we performed Sanger sequencing of the <i>SLCO2A1</i> gene in 46 patients with chronic intestinal  ...[more]

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