{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:11:57Z","timestamp":1760145117634,"version":"build-2065373602"},"reference-count":25,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2024,6,24]],"date-time":"2024-06-24T00:00:00Z","timestamp":1719187200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"HEAL ITALIA\u2014HEALTH EXTENDED ALLIANCE FOR INNOVATIVE THERAPIES, ADVANCED LAB RESEARCH, AND INTEGRATED APPROACHES OF PRECISION MEDICINE","award":["PE0000019","B53C22004000006"],"award-info":[{"award-number":["PE0000019","B53C22004000006"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background. Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) is an autosomal dominant autoinflammatory disorder stemming from mutations in the TNFRSF1A gene affecting the tumor necrosis factor receptor (TNFR)-1. These mutations lead to dysregulated inflammatory responses, primarily mediated by augmented interleukin (IL)-1\u03b2 release. Case Presentation. We present the case of a 29-year-old woman with a history of recurrent febrile episodes, abdominal pain, and joint manifestations, eventually diagnosed with TRAPS following genetic testing revealing a heterozygous R92Q mutation in TNFRSF1A. Further genetic examinations unveiled additional clinically significant mutations, complicating the clinical picture. Our patient exhibited delayed colonic transit time and right colonic amyloidosis, a rare complication. Surgical intervention was required for overwhelming intestinal obstruction, revealing mucosal atrophy and dense lymphocytic infiltrates on histological examination. Discussion. Gastrointestinal involvement in TRAPS is common but can present diagnostic challenges. Following colon resection, histological examination revealed amyloid deposition, underscoring the importance of a comprehensive evaluation of these patients. Isolated colic amyloidosis has significant diagnostic and prognostic implications, warranting cautious monitoring and tailored management strategies. Treatment of TRAPS typically involves anti-inflammatory agents such as IL-1 inhibitors, with our patient experiencing clinical improvement on anakinra and canakinumab. Conclusion. This case report emphasizes the diverse manifestations of TRAPS and the importance of recognizing gastrointestinal complications, particularly isolated colic amyloidosis. Comprehensive evaluation, including histological examination, is crucial for identifying atypical disease presentations and guiding management decisions. Continued research is needed to elucidate the underlying mechanisms and optimize treatment strategies for TRAPS and its associated complications.<\/jats:p>","DOI":"10.3390\/diagnostics14131337","type":"journal-article","created":{"date-parts":[[2024,6,24]],"date-time":"2024-06-24T06:59:58Z","timestamp":1719212398000},"page":"1337","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The Multifaceted Complexity of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS): A Case Report Highlighting Atypical Gastrointestinal Manifestations"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7465-2229","authenticated-orcid":false,"given":"Massimiliano","family":"Mancini","sequence":"first","affiliation":[{"name":"Morphologic and Molecular Pathology Unit, Sant\u2019Andrea University Hospital, 00189 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9026-7758","authenticated-orcid":false,"given":"Giovanni","family":"Di Nardo","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Sapienza University of Rome, Pediatric Unit, Sant\u2019Andrea University Hospital, 00189 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6216-8923","authenticated-orcid":false,"given":"Emanuele","family":"Casciani","sequence":"additional","affiliation":[{"name":"University of Rome Tor Vergata\u2014Casa di Cura Pio XI, 00133 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Feudi","sequence":"additional","affiliation":[{"name":"Morphologic and Molecular Pathology Unit, Sant\u2019Andrea University Hospital, 00189 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lavinia","family":"Bargiacchi","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences and Translational Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5700-7164","authenticated-orcid":false,"given":"Angelica","family":"Petraroli","sequence":"additional","affiliation":[{"name":"Department of Translational Medical Sciences, University of Naples Federico II, 80133 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0115-1420","authenticated-orcid":false,"given":"Francesca","family":"Della Casa","sequence":"additional","affiliation":[{"name":"Department of Translational Medical Sciences, University of Naples Federico II, 80133 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3159-5380","authenticated-orcid":false,"given":"Arianna","family":"Di Napoli","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Medicine, Sant\u2019Andrea Hospital, 00189 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5497-6856","authenticated-orcid":false,"given":"Andrea","family":"Vecchione","sequence":"additional","affiliation":[{"name":"Department of Clinical and Molecular Medicine, Sant\u2019Andrea Hospital, 00189 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0092-8674(00)80721-7","article-title":"Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes","volume":"97","author":"McDermott","year":"1999","journal-title":"Cell"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1016\/S0952-7915(00)00124-2","article-title":"TNFRSF1A Mutations and Autoinflammatory Syndromes","volume":"12","author":"Galon","year":"2000","journal-title":"Curr. 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