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Rare disease
CASE REPORT
Symptomatic involvement of the stomach and duodenum as initial presentation of AL amyloidosis
  1. Faisal Inayat1,
  2. Asad Ur Rahman2,
  3. Effa Zahid3,
  4. Nouman Safdar Ali1 and
  5. Roger Charles2
  1. 1 Allama Iqbal Medical College, Lahore, Pakistan
  2. 2 Cleveland Clinic Florida, Weston, Florida, USA
  3. 3 Services Institute of Medical Sciences, Lahore, Pakistan
  1. Correspondence to Dr Faisal Inayat, faisalinayat{at}hotmail.com

Abstract

Primary systemic or amyloid light chain (AL) amyloidosis is a multisystem disorder with myriad presentations. Although it can involve the upper gastrointestinal tract in 8% of cases, symptomatic involvement is exceedingly rare. We chronicle here a case of postprandial epigastric pain associated with AL amyloidosis involving the stomach and duodenum. Pathological examination of endoscopic biopsy using Congo red staining confirmed the diagnosis. In order to establish the underlying aetiology of AL amyloidosis, the patient underwent extensive workup. Eventually, she was diagnosed with multiple myeloma based on the standard set of investigations. This paper underscores the importance of clinical suspicion of amyloidosis in patients presenting with non-specific gastrointestinal symptoms and highlights the role of endoscopic biopsy to confirm the amyloid deposition. Since gastrointestinal amyloidosis is a disease with a poor prognosis, early diagnosis and treatment are particularly warranted.

  • stomach and duodenum
  • endoscopy
  • drugs: gastrointestinal system
  • general practice / family medicine
  • haematology (incl blood transfusion)

https://doi.org/10.1136/bcr-2018-227550

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    Footnotes

    • Patient consent for publication Obtained.

    • Contributors FI: designed the study, performed the literature review, drafted the manuscript, reviewed the manuscript and made important modifications. AUR: drafted the manuscript, revised the manuscript critically for important intellectual content and gave the final approval for the version published. EZ: drafted the manuscript and contributed to the case presentation. NSA: reviewed the literature and drafted the manuscript. RC: revised the manuscript and suggested pertinent modifications.

    • 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.

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