Persistent diarrhea with petechial rash - unusual pattern of light chain amyloidosis deposition on skin and gastrointestinal biopsies: A case report

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dc.contributor.authorBilton, Shawna E.en
dc.contributor.authorShah, Nikhilen
dc.contributor.authorDougherty, Dianaen
dc.contributor.authorSimpson, Sarahen
dc.contributor.authorHolliday, Alexen
dc.contributor.authorSahebjam, Farhaden
dc.contributor.authorGrider, Douglas J.en
dc.date.accessioned2023-06-16T19:52:16Zen
dc.date.available2023-06-16T19:52:16Zen
dc.date.issued2022-10-06en
dc.date.updated2023-06-16T19:48:06Zen
dc.description.abstractBACKGROUND Amyloidosis is a rare disease characterized by extracellular deposition of misfolded protein aggregated into insoluble fibrils. Gastrointestinal involvement in systemic amyloidosis is common, but is often subclinical or presents as vague and nonspecific symptoms. It is rare for gastrointestinal symptoms to be the main presenting symptom in patients with systemic amyloidosis, causing it to be undiagnosed until late-stage disease. CASE SUMMARY A 53 year-old man with diarrhea, hematochezia, and weight loss presented to a community hospital. Colonoscopy with biopsy at that time was suspicious for Crohn disease. Due to worsening symptoms including nausea, vomiting, and a new petechial rash, an abdominal fat pad biopsy was done. The biopsy showed papillary and adnexal dermal amyloid deposition, in a pattern usually seen with cutaneous amyloidosis. However, Cytokeratin 5/6 was negative, excluding cutaneous amyloidosis. The patterns of nodular amyloidosis, subcutaneous amyloid deposits and perivascular amyloid were not seen. Periodic Acid-Schiff stain was negative for lipoid proteinosis, Congo red was positive for apple green birefringence on polarization and amyloid typing confirmed amyloid light chain amyloidosis. Repeat endoscopic biopsies of the gastrointestinal tract showed amyloid deposition from the esophagus to the rectum, in a pattern usually seen in serum amyloid A in the setting of chronic inflammatory diseases, including severe inflammatory bowel disease. Bone marrow biopsy showed kappa-restricted plasma cell neoplasm. CONCLUSION Described is an unusual presentation of primary systemic amyloidosis, highlighting the risk of misdiagnosis with subsequent significant organ dysfunction and high mortality.en
dc.description.versionPublished versionen
dc.format.extentPages 10252-10259en
dc.format.mimetypeapplication/pdfen
dc.identifier.doihttps://doi.org/10.12998/wjcc.v10.i28.10252en
dc.identifier.eissn2307-8960en
dc.identifier.issn2307-8960en
dc.identifier.issue28en
dc.identifier.orcidGrider, Douglas [0000-0002-6346-094X]en
dc.identifier.otherPMC9561598en
dc.identifier.pmid36246794en
dc.identifier.urihttp://hdl.handle.net/10919/115450en
dc.identifier.volume10en
dc.language.isoenen
dc.publisherBaishidengen
dc.relation.urihttps://www.ncbi.nlm.nih.gov/pubmed/36246794en
dc.rightsCreative Commons Attribution-NonCommercial 4.0 Internationalen
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/en
dc.subjectCase reporten
dc.subjectDiarrheaen
dc.subjectEndoscopyen
dc.subjectLight chain amyloidosisen
dc.subjectPetechial rashen
dc.subjectPlasma cell dyscrasiaen
dc.subjectClinical Researchen
dc.subjectRare Diseasesen
dc.subjectNeurodegenerativeen
dc.subjectPreventionen
dc.subjectDigestive Diseasesen
dc.titlePersistent diarrhea with petechial rash - unusual pattern of light chain amyloidosis deposition on skin and gastrointestinal biopsies: A case reporten
dc.title.serialWorld Journal of Clinical Casesen
dc.typeArticle - Refereeden
dc.type.dcmitypeTexten
dc.type.otherJournal Articleen
dcterms.dateAccepted2022-08-05en
pubs.organisational-group/Virginia Techen
pubs.organisational-group/Virginia Tech/VT Carilion School of Medicineen
pubs.organisational-group/Virginia Tech/VT Carilion School of Medicine/Internal Medicineen
pubs.organisational-group/Virginia Tech/VT Carilion School of Medicine/Basic Scienceen
pubs.organisational-group/Virginia Tech/VT Carilion School of Medicine/Basic Science/Basic Scienceen
pubs.organisational-group/Virginia Tech/VT Carilion School of Medicine/Internal Medicine/General IMen

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