Advertisement

Multiple small intestinal ulcers with SLCO2A1 mutation in a Chinese patient

  • Chang Zheng
    Affiliations
    Department of Gastroenterology, The Affiliated Nanjing Drum Tower Hospital of Medical School of Nanjing University, Zhongshan Road No. 231, Nanjing 210000, China
    Search for articles by this author
  • Qian Zhong
    Affiliations
    Department of Gastroenterology, The Affiliated Nanjing Drum Tower Hospital of Medical School of Nanjing University, Zhongshan Road No. 231, Nanjing 210000, China
    Search for articles by this author
  • Yiyang Zhang
    Affiliations
    Department of Gastroenterology, The Affiliated Nanjing Drum Tower Hospital of Medical School of Nanjing University, Zhongshan Road No. 231, Nanjing 210000, China
    Search for articles by this author
  • Chunyan Peng
    Correspondence
    Corresponding author.
    Affiliations
    Department of Gastroenterology, The Affiliated Nanjing Drum Tower Hospital of Medical School of Nanjing University, Zhongshan Road No. 231, Nanjing 210000, China
    Search for articles by this author
Published:October 12, 2022DOI:https://doi.org/10.1016/j.dld.2022.09.012
      A 31-year-old man was admitted to our hospital due to recurrent abdominal pain and intermittent melena for 9 years. He also suffered from skin thickening and digital clubbing since adolescence (Fig. 1A and B). He denied intake of non-steroidal, anti-inflammatory drugs. Blood tests revealed normocytic normochromic anemia (hemoglobin, 110 g/dL). Other examinations such as T-SPOT.TB, autoantibody biomarkers, cytomegalovirus, Epstein-Barr virus, and growth hormone level were normal. X-ray showed irregular cortical thickening of the tibiofibular and hand (Fig. 1C). Computed tomography enterography (CTE) demonstrated the segmental wall thickening of the ileum (Fig. 1D). Gastroscopy and colonoscopy were performed, with no abnormalities noted. Double-balloon enteroscopy revealed multiple, superficial, eccentric oblique or circular ulcers, with mild luminal stricture in the middle and lower parts of ileum (Fig. 1E). Biopsy samples confirmed chronic non-specific mucosal inflammation. During the multidisciplinary discussion, the clinical diagnosis of primary hypertrophic osteoarthropathy (PHO) was suggested. Further genetic analysis identified a homozygous mutation of SLCO2A1 gene: c.290G>A (p.Arg97His) in exon 3. Therefore, the patient was definitely diagnosed as chronic enteropathy associated with SLCO2A1 gene (CEAS) and PHO [
      • Tran T.H.
      • Luu B.T.
      • Pham A.D.
      • et al.
      Diagnosis and management of a patient with primary hypertrophic osteoarthropathy with SCLO2A1 Pathogenic Variants in Vietnam.
      ]. CEAS is a rare genetic disease related to SLCO2A1 mutations, which can involve the gastrointestinal tract, skin and bone [
      • Yadav N.
      • Yanamandra U.
      Primary hypertrophic osteoarthropathy.
      ]. There is no effective treatment for CEAS at present. CEAS is a different entity from other inflammatory gastrointestinal diseases.
      Fig 1
      Fig. 1Clinical features and relevant examination results. (A) Skin thickening of face. (B) Digital clubbing. (C) Bony proliferation at the tips of the phalanges. (D) Segmental wall thickening of the ileum. (E) Ulcers and luminal strictures of ileum.
      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Digestive and Liver Disease
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Tran T.H.
        • Luu B.T.
        • Pham A.D.
        • et al.
        Diagnosis and management of a patient with primary hypertrophic osteoarthropathy with SCLO2A1 Pathogenic Variants in Vietnam.
        J Clin Rheumatol. 2021; 27: S739-S740
        • Yadav N.
        • Yanamandra U.
        Primary hypertrophic osteoarthropathy.
        New Engl J Med. 2022; 386 (vol9): e22