{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T14:58:30Z","timestamp":1775141910861,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T00:00:00Z","timestamp":1758758400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Gaucher disease (GD) is a rare lysosomal storage disorder caused by pathogenic variants in the\n                    <jats:italic>GBA<\/jats:italic>\n                    gene. Splenic artery aneurysm (SAA) is an uncommon and underrecognized complication of GD, particularly in the absence of traditional risk factors. SAA carries a high risk of rupture and significant mortality. This hybrid study investigates the clinical features and impact of SAA in GD through a three\u2010part approach: a case report, a scoping review with individual patient data (IPD) analysis, and a clinical survey conducted across two GD centers in Naples, Italy. We report the case of a 46\u2010year\u2010old woman with GD type 1, in whom a 37\u2009\u00d7\u200932\u2009mm calcified SAA was incidentally found. Despite the high risk of rupture, the patient opted for regular radiological monitoring. Over a 16\u2010year follow\u2010up period, the aneurysm remained stable. In the literature, we identified 11 GD subjects (four [36.4%] males and seven [63.6%] females) with SAA, including our case report. Most had not received enzyme replacement therapy (ERT) or were non\u2010compliant before the SAA diagnosis. Only two patients reported abdominal pain, and one died due to intraoperative hemorrhage. In our clinical survey, the prevalence of SAA in GD patients was 2.1%, twice that reported in individuals without GD. Although SAA is a rare and often underdiagnosed complication in GD, its potential lethality warrants heightened clinical awareness. We recommend incorporating magnetic resonance imaging for routine evaluation of the spleen and splenic artery in GD patients. This strategy, in conjunction with timely ERT, may be life\u2010saving.\n                  <\/jats:p>","DOI":"10.1002\/jmd2.70044","type":"journal-article","created":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T06:05:48Z","timestamp":1758866748000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Splenic Artery Aneurysm in Gaucher Disease: A Hybrid Study Combining Case Report, Scoping Review, and Clinical Survey"],"prefix":"10.1002","volume":"66","author":[{"given":"Paolo","family":"Manzi","sequence":"first","affiliation":[{"name":"Department of Clinical Medicine and Surgery University of Naples \u201cFederico II\u201d  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-6574-9120","authenticated-orcid":false,"given":"Anita","family":"Vergatti","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine and Surgery University of Naples \u201cFederico II\u201d  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronica","family":"Abate","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine and Surgery University of Naples \u201cFederico II\u201d  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"Altavilla","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine and Surgery University of Naples \u201cFederico II\u201d  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelina","family":"Sibilio","sequence":"additional","affiliation":[{"name":"Metabolic Diseases Unit Santobono\u2010Pausilipon Children's Hospital  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pietro","family":"Venetucci","sequence":"additional","affiliation":[{"name":"Advanced Biomedical Sciences Department University Federico II of Naples  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Tirelli","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine \u201cOspedale del Mare\u201d Hospital  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0331-0392","authenticated-orcid":false,"given":"Domenico","family":"Rendina","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine and Surgery University of Naples \u201cFederico II\u201d  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4660-821X","authenticated-orcid":false,"given":"Antonio","family":"Barbato","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine and Surgery University of Naples \u201cFederico II\u201d  Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,9,25]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminhematol.2004.07.010"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1259\/bjr.75.suppl_1.750002"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18020441"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u2010227X\u201012\u201011"},{"key":"e_1_2_11_6_1","volume-title":"Splenic Artery Aneurysm","author":"Kassem M. 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