Dataset Information

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]

PMID: 35611666

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Project description:ObjectiveChronic enteropathy associated with SLCO2A1 gene (CEAS) is a recently recognized disease. We aimed to evaluate the enterographic findings of CEAS.Materials and methodsAltogether, 14 patients with CEAS were confirmed based on known SLCO2A1 mutations. They were registered in a multicenter Korean registry between July 2018 and July 2021. Nine of the patients (37.2 ± 13 years; all female) who underwent surgery-naïve-state computed tomography enterography (CTE) or magnetic resonance enterography (MRE) were identified. Two experienced radiologists reviewed 25 and 2 sets of CTE and MRE examinations, respectively, regarding the small bowel findings.ResultsIn initial evaluation, eight patients showed a total of 37 areas with mural abnormalities in the ileum on CTE, including 1-4 segments in six and > 10 segments in two patients. One patient showed unremarkable CTE. The involved segments were 10-85 mm (median, 20 mm) in length, 3-14 mm (median, 7 mm) in mural thickness, circumferential in 86.5% (32/37), and showed stratified enhancement in the enteric and portal phases in 91.9% (34/37) and 81.8% (9/11), respectively. Perienteric infiltration and prominent vasa recta were noted in 2.7% (1/37) and 13.5% (5/37), respectively. Bowel strictures were identified in six patients (66.7%), with a maximum upstream diameter of 31-48 mm. Two patients underwent surgery for strictures immediately after the initial enterography. Follow-up CTE and MRE in the remaining patients showed minimal-to-mild changes in the extent and thickness of the mural involvement for 17-138 months (median, 47.5 months) after initial enterography. Two patients required surgery for bowel stricture at 19 and 38 months of follow-up, respectively.ConclusionCEAS of the small bowel typically manifested on enterography in varying numbers and lengths of abnormal ileal segments that showed circumferential mural thickening with layered enhancement without perienteric abnormalities. The lesions caused bowel strictures that required surgery in some patients.