A male Korean who was diagnosed with chronic enteropathy associated with<i>SLCO2A1</i>(CEAS): case report with literature review

Sun, Xiaobai; Hosoe, Naoki; Miyanaga, Ryoichi; Kimura, Kazuhiro; Mizuno, Shinta; Takabayashi, Kaoru; Niizeki, Hironori; Seki, Atsuhito; Ogata, Haruhiko; Kanai, Takanori

doi:10.1136/bmjgast-2018-000223

Cited by 16 publications

(8 citation statements)

References 14 publications

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“…In 2018, a male Korean diagnosed with CEAS was reported as the first non-Japanese patient with the disease. 13 CEAS has now been reported in Japan, Korea, and China. 14 In particular, Huang et al 15 identified four new SLCO2A1 variants.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2022

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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.

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Section: Introductionmentioning

confidence: 99%

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

et al. 2022

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“…We searched the keywords of “CEAS”, “nonspecific multiple ulcers” or “ SLCO2A1 and enteropathy” in the PUBMED and reviewed the literatures. So far as we know, all of the patients reported in the literatures diagnosed with CEAS were almost Japanese, except two patients recently reported by Korea [ 3 ] and Chinese [ 4 ]. Thus, we hypothesized that CEAS was underestimated or was not recognized in Chines patients.…”

Section: Discussionmentioning

confidence: 99%

Obscure gastrointestinal bleeding caused by congenital enteropathy in a Chinese young child-a case report

Fang

Luo

et al. 2020

BMC Pediatr

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Background SLCO2A1 was recently reported to cause nonspecific ulcers at small bowel, it was named as chronic enteropathy associated with SLCO2A1 (CEAS). It was rarely reported beyond the Japanese population. Case presentation A 4-year-5-month old girl presented with intractable anemia since 1-year-3-month. Her stool occult blood test was positive and the result of esophagogastroduodenoscopy and colonoscopy were normal. She was considered as obscure gastrointestinal bleeding. The magnetic resonance enterography and ultrasound of small intestinal revealed segmental thickening of small bowel. The capsule endoscopy detected ulcers, erosion and slightly stenosis near the site of junction of jejunum and ileum. She was considered chronic non-specific multiple ulcers of the small intestine and was advised to have whole exon sequencing. She was treated with exclusive enteral nutrition and iron supplement for two months. However, she was not responsive to this treatment, then she had three doses of infliximab. At the same time, the next-generation sequencing of this patient revealed two novel compound heterozygous mutations in SLCO2A1. She was diagnosed with CEAS and was treated with oral mercaptopurine. Her hemoglobin level was stable and the serum albumin level was slightly decreased during the follow up. Conclusion CEAS may present as nonspecific small bowel ulcers, and misinterpret as small bowel Crohn’s disease. Genetic tests may help with the precise diagnosis of small bowel ulcers.

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“…The relationship between PHO and CEAS is very close, and some of their clinical symptoms overlap, and the relationship between the two is worth exploring. Sun et al [32] believed that CEAS and PHO may be different manifestations of the same pathological process, and they are two sides of a coin. These ndings indicate that the clinical characteristics of SLCO2A1-related diseases are in uenced by other factors.…”

Section: Diseases Associated With Slco2a1mentioning

confidence: 99%

Chronic Enteropathy Associated with SLCO2A1-Associated Primary Hypertrophic Osteoarthropathy in Female Patients: A Case Report and Literature Review

Long

Tang

Zhao

et al. 2021

Preprint

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This paper reports a case of chronic enteropathy associated with the SLCO2A1 gene (CEAS) combined with primary hypertrophic osteoarthropathy (PHO). The patient was a 25-year-old woman with a normal onset of puberty who was admitted to our hospital four times due to intractable oedema and anaemia. She had a history of hyperhidrosis since childhood, and her parents were close relatives (cousins). Enteroscopy revealed stenotic ulcers on the ileocecal valve and the terminal ileum. Computed tomography enterography (CTE) and magnetic resonance enterography (MRE) showed segmental thickening of the ileum and terminal intestinal wall and centripetal narrowing of some intestinal cavities. MRE also showed a marked "comb sign" in the adjacent mesentery, and X-rays of both lower limbs showed thickening of the tibiofibular cortex. The CEAS pathogenic genes were screened by whole exome sequencing, and a homozygous missense mutation of p. Gly222Asp (c.664G>A) was found in the fifth exon of the SLCO2A1 gene, which was verified by Sanger sequencing. In conclusion, the patient was identified as CEAS with PHO associated with a SLCO2A1 gene mutation, but the patient is a young woman, which has rarely been reported in previous studies. In addition to reporting her case, the relevant literature was reviewed to improve clinicians' understanding of diseases associated with the SLCO2A1 gene.

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A male Korean who was diagnosed with chronic enteropathy associated withSLCO2A1(CEAS): case report with literature review

Cited by 16 publications

References 14 publications

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

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

Obscure gastrointestinal bleeding caused by congenital enteropathy in a Chinese young child-a case report

Chronic Enteropathy Associated with SLCO2A1-Associated Primary Hypertrophic Osteoarthropathy in Female Patients: A Case Report and Literature Review

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