Evidence map›Paper›PMID 36480694›Full record

ArticleJournal of Crohn's & colitis2023

Crohn-like Disease Affecting Small Bowel Due to Monogenic SLCO2A1 Mutations: First Cases of Chronic Enteropathy Associated with SLCO2A1 Gene [CEAS] in France.

Annick Hamon, Dominique Cazals-Hatem, Carmen Stefanescu, Mathieu Uzzan, Xavier Treton, Alain Sauvanet, Yves Panis, Marie Monsinjon, Fanny Bonvalet, Olivier Corcos and 4 more

Open access · hybridAbstract readCase Reports
In one paragraph

Article in Journal of Crohn's & colitis, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
2.7field-weighted citation impact, top 9% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.

  1. Pooled it
  2. Translating IBD Genomics into Clinical Practice.Digestive diseases and sciences · 2026
    Review
  3. Article
  4. Review
  5. Article
  6. Molecular basis of prostaglandin ENature communications · 2025
    Article
  7. Endocrine Alterations in Patients With Pachydermoperiostosis.The Journal of clinical endocrinology and metabolism · 2025
    Article
  8. Article
  9. Article
  10. Article
  11. Chronic Enteropathy Associated withInflammatory intestinal diseases
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 3 institutions in 1 country.

Annick HamonDepartment of Gastroenterology, Beaujon Hospital, University of Paris, Paris, France.
Dominique Cazals-HatemDepartment of Pathology, Beaujon Hospital, University of Paris, Paris, France.
Carmen StefanescuDepartment of Gastroenterology, Beaujon Hospital, University of Paris, Paris, France.
Mathieu UzzanDepartment of Gastroenterology, Mondor Hospital, University of Paris, Paris, France.
Xavier TretonDepartment of Gastroenterology, Beaujon Hospital, University of Paris, Paris, France.
Alain SauvanetDepartment of Hepato-biliary Surgery, Beaujon Hospital, University of Paris, Paris, France.
Yves PanisDepartment of Hepato-biliary Surgery, Beaujon Hospital, University of Paris, Paris, France.ORCID 0000-0001-9553-9727
Marie MonsinjonDepartment of Colorectal Surgery, Beaujon Hospital, Paris, France.
Fanny BonvaletDepartment of Radiology, Beaujon Hospital, University of Paris, Paris, France.
Olivier CorcosDepartment of Gastroenterology, Beaujon Hospital, University of Paris, Paris, France.
Emilie AzougueneDepartment of Genomic Medecine for Rare Diseases, Necker-Enfants Malades Hospital, University of Paris-Cité, Paris, France.
Nadine Cerf-BensussanINSERM UMR1163, Intestinal Immunity, Institut Imagine, Paris, France.
Yoram BouhnikDepartment of Gastroenterology, Beaujon Hospital, University of Paris, Paris, France.
Fabienne Charbit-HenrionDepartment of Genomic Medecine for Rare Diseases, Necker-Enfants Malades Hospital, University of Paris-Cité, Paris, France.ORCID 0000-0003-4615-3953
Université Paris Cité · FRInserm · FRHôpital Beaujon · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionMultiple chronic ulcers of small intestine are mainly ascribed to Crohn's disease. Among possible differential diagnoses are chronic ulcers of small bowel caused by abnormal activation of the prostaglandin pathway either in the archetypal but uncommon non-steroidal anti-inflammatory drug [NSAID]-induced enteropathy, or in rare monogenic disorders due to PLA2G4A and SLCO2A1 mutations. SLCO2A1 variants are responsible for CEAS [chronic enteropathy associated with SLCO2A1], a syndrome which was exclusively reported in patients of Asian origin. Herein, we report the case of two French female siblings, P1 and P2, with CEAS. CASE REPORT: P1 underwent iterative bowel resections [removing 1 m of small bowel in total] for recurrent strictures and perforations. Her sister P2 had a tight duodenal stricture which required partial duodenectomy. Next-generation sequencing was performed on P1's DNA and identified two compound heterozygous variants in exon 12 in SLCO2A1, which were also present in P2.

conclusionCEAS can be detected within the European population and raises the question of its incidence and recognition outside Asia. Presence of intractable recurrent ulcerations of the small intestine, mimicking Crohn's disease with concentric strictures, should motivate a genetic search for SLCO2A1 mutations, particularly in the context of family history or consanguinity.

Indexed as

Crohn DiseaseIntestinal DiseasesOrganic Anion TransportersConstriction, PathologicFemaleHumansIntestine, SmallMutationUlcerOrganic Anion TransportersSLCO2A1 protein, humancrohn-like ulcersmonogenic enteropathyprostaglandinessmall bowel strictureSmall bowel ulcerations

Identifiers

PMID36480694
PMCPMC10155746
OpenAlexW4310945361

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.