Article Text

Download PDFPDF
Challenging diagnosis of indolent systemic mastocytosis isolated to the GI tract
  1. Luke Horton1,
  2. Nabil Al-Kourainy1,
  3. Dana Kabbani1 and
  4. Carter R Bishop2,3
  1. 1Internal Medicine, Wayne State University School of Medicine, Detroit, Michigan, USA
  2. 2Hematology, Detroit Medical Center, Detroit, Michigan, USA
  3. 3Hematology and Oncology, Wayne State University School of Medicine, Detroit, Michigan, USA
  1. Correspondence to Mr Luke Horton; luke.horton2{at}med.wayne.edu

Abstract

Mastocytosis is a rare group of disorders that presents with heterogenous phenotypes depending on the organ system involved. In the absence of cutaneous involvement—mast cell aggregates that may present as papules, nodules or plaques—classically associated with indolent systemic mastocytosis (SM), the diagnosis of this rare condition is particularly challenging. When localised to the gastrointestinal (GI) tract, symptoms of indolent SM are often non-specific and mimic common conditions such as inflammatory bowel disease or irritable bowel syndrome. Diagnosis may be suspected by clinical presentation, but biopsy with histopathological analysis is necessary to confirm. We present a rare case of indolent SM without cutaneous features. In the absence of typical cutaneous features, indolent SM should be considered in the differential diagnosis of a patient with persistent GI symptoms refractory to medical treatment, as failure to do so can lead to delay in the appropriate diagnosis and treatment.

  • gastroenterology
  • inflammatory bowel disease
  • irritable bowel syndrome
  • general practice / family medicine
  • pathology

Statistics from Altmetric.com

Footnotes

  • Contributors All authors contributed to the concept and design of the study, the collection and assembly of data, and the data analysis and interpretation. DK and CRB provided the patient in the study. LH and NA-K drafted the manuscript with editing by DK and CRB. LH and NA-K provided administrative support. All authors read and approved the final manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.