{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T16:57:25Z","timestamp":1791305845802,"version":"4.3.1"},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T00:00:00Z","timestamp":1788739200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T00:00:00Z","timestamp":1788739200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Intern Med"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>AA amyloidosis (AAA) remains a life\u2010threatening yet largely preventable complication of monogenic autoinflammatory diseases (AIDs).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We retrospectively described patients with AAA secondary to one of the four historical monogenic AIDs (familial Mediterranean fever [FMF], cryopyrin\u2010associated periodic syndrome [CAPS], mevalonate kinase deficiency [MKD] and tumour necrosis factor receptor\u2013associated periodic syndrome [TRAPS]) followed at the French National Referral Centre for Monogenic AIDs and Inflammatory Amyloidosis (2012\u20132025).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Among 181 patients followed for AAA, 50 (28%) had one of the four monogenic AIDs (FMF\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a041, CAPS\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a04, MKD\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a03, TRAPS\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a02), corresponding to an overall prevalence of 5% among all patients with monogenic AIDs. AAA preceded the diagnosis of the underlying AID in 40% of patients, particularly those with non\u2010FMF diseases. Disease burden remained high, with 46% of patients requiring kidney transplantation, whereas mortality reached 26% during follow\u2010up.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>AAA continues to reflect delayed diagnosis, highlighting the need for increased awareness among adult healthcare providers, systematic genetic evaluation of unexplained AAA and early inflammatory control.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/joim.70155","type":"journal-article","created":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T03:31:36Z","timestamp":1788838296000},"page":"709-718","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["AA amyloidosis in the four historical monogenic autoinflammatory diseases: Clinical burden and insights from a retrospective referral\u2010centre study"],"prefix":"10.1111","volume":"300","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2560-5199","authenticated-orcid":false,"given":"Majdouline","family":"El Moussaoui","sequence":"first","affiliation":[{"name":"Sorbonne university, Department of internal Medicine Tenon Hospital AP\u2010HP Paris France"},{"name":"Department of Internal Medicine and Clinical Immunology University Hospital of Li\u00e8ge Li\u00e8ge Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1989-1304","authenticated-orcid":false,"given":"L\u00e9a","family":"Savey","sequence":"additional","affiliation":[{"name":"Sorbonne university, Department of internal Medicine Tenon Hospital AP\u2010HP Paris France"},{"name":"French National Reference Centre for Autoinflammatory Diseases (CEREMAIA) Paris France"},{"name":"ERN RITA (European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Disease Network)  Utrecht the Netherlands"},{"name":"F\u00e9d\u00e9ration Hospitalo \u2013 Universitaire INFLAMME  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-3627-7740","authenticated-orcid":false,"given":"Hassina Sofia","family":"Aloui\u2010Belhocine","sequence":"additional","affiliation":[{"name":"Sorbonne university, Department of internal Medicine Tenon Hospital AP\u2010HP Paris France"},{"name":"French National Reference Centre for Autoinflammatory Diseases (CEREMAIA) Paris France"},{"name":"ERN RITA (European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Disease Network)  Utrecht the Netherlands"},{"name":"F\u00e9d\u00e9ration Hospitalo \u2013 Universitaire INFLAMME  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6868-8943","authenticated-orcid":false,"given":"Jean\u2010Jacques","family":"Boffa","sequence":"additional","affiliation":[{"name":"Department of Nephrology Tenon Hospital Sorbonne University Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9876-568X","authenticated-orcid":false,"given":"Marion","family":"Delplanque","sequence":"additional","affiliation":[{"name":"Sorbonne university, Department of internal Medicine Tenon Hospital AP\u2010HP Paris France"},{"name":"French National Reference Centre for Autoinflammatory Diseases (CEREMAIA) Paris France"},{"name":"ERN RITA (European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Disease Network)  Utrecht the Netherlands"},{"name":"F\u00e9d\u00e9ration Hospitalo \u2013 Universitaire INFLAMME  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-8830-6357","authenticated-orcid":false,"given":"Catherine","family":"Grandpeix\u2010Guyodo","sequence":"additional","affiliation":[{"name":"Sorbonne university, Department of internal Medicine Tenon Hospital AP\u2010HP Paris France"},{"name":"French National Reference Centre for Autoinflammatory Diseases (CEREMAIA) Paris France"},{"name":"ERN RITA (European Reference Network for Rare Immunodeficiency, Autoinflammatory and Autoimmune Disease Network)  Utrecht the Netherlands"},{"name":"F\u00e9d\u00e9ration Hospitalo \u2013 Universitaire INFLAMME  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5035-2958","authenticated-orcid":false,"given":"Irina","family":"Giurgea","sequence":"additional","affiliation":[{"name":"Molecular Genetics Unit Trousseau Hospital Sorbonne University  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4007-3629","authenticated-orcid":false,"given":"Laurence","family":"Cuisset","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Biology Cochin Hospital Paris \u2013 Cit\u00e9 University Paris 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