{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T15:27:42Z","timestamp":1758814062778,"version":"3.41.0"},"reference-count":19,"publisher":"Public Library of Science (PLoS)","issue":"6","license":[{"start":{"date-parts":[[2025,6,26]],"date-time":"2025-06-26T00:00:00Z","timestamp":1750896000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS One"],"abstract":"<jats:sec id=\"sec012\">\n<jats:title>Introduction<\/jats:title>\n<jats:p>Alpha-1 Antitrypsin Deficiency (AATD)-associated panniculitis is a rare inflammatory condition characterized by painful subcutaneous plaques or nodules, often accompanied by ulceration or oily discharge. Despite its clinical and emotional burden, limited data exist on the lived experiences of individuals with this condition.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec013\">\n<jats:title>Method<\/jats:title>\n<jats:p>An international online survey was conducted between April and July 2024, targeting individuals with AATD-associated panniculitis. The survey, co-designed with an affected individual and multi-disciplinary specialists, included 32 questions on demographics, diagnostic journey, life impact, and treatments. Responses were analysed using descriptive statistics and thematic analysis.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec014\">\n<jats:title>Results<\/jats:title>\n<jats:p>41 responses were included in the analysis (68% female; mean age 52.3 years). Participants reported lesions at diverse sites, affecting the lower and upper limbs, followed by the trunk, buttocks, and genitalia. 41.5% experienced both ulceration and oily discharge. 61% of participants reported being misdiagnosed which negatively affected their mental health. More than half of respondents \u2018strongly agreed\u2019 or \u2018agreed\u2019 that living with alpha-1 panniculitis had made them anxious. Access to specialist care was a major concern, with 69% finding it difficult to obtain specialist advice. Treatments varied, and augmentation therapy was identified as the subjectively the most effective. Open-ended responses revealed gaps in healthcare professionals\u2019 awareness and highlighted the need for better mental health support and specialist access.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec015\">\n<jats:title>Conclusion<\/jats:title>\n<jats:p>AATD-associated panniculitis significantly impacts physical, emotional, and social well-being. Addressing gaps in diagnosis and treatment, increasing healthcare providers awareness, and adopting multidisciplinary approaches are essential to improve individuals\u2019 outcomes and quality of life.<\/jats:p>\n<\/jats:sec>","DOI":"10.1371\/journal.pone.0326686","type":"journal-article","created":{"date-parts":[[2025,6,26]],"date-time":"2025-06-26T17:32:08Z","timestamp":1750959128000},"page":"e0326686","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":1,"title":["Alpha-1 Antitrypsin Deficiency-Associated panniculitis: A survey of lived experience"],"prefix":"10.1371","volume":"20","author":[{"given":"Jaiden","family":"Townsend","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-0308-3828","authenticated-orcid":true,"given":"Reem","family":"Alluhibi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicky","family":"Lynch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Woolf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aileen","family":"Marshall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David A.","family":"Lomas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John R.","family":"Hurst","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2025,6,26]]},"reference":[{"issue":"15","key":"pone.0326686.ref001","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1056\/NEJMra1910234","article-title":"Alpha1 -Antitrypsin Deficiency. 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Popa\u201d University of Medicine and Pharmacy, Faculty of Medicine, Department of Dermatology, Iasi, Romania Railway Clinical Hospital, Dermatology Clinic, Iasi, Romania Dermalux, Iasi, Romania, Branisteanu DE, Cojocaru M, Railway Clinical Hospital, Dermatology Clinic, Iasi, Romania, Nicolescu AC, \u201cAgrippa Ionescu\u201d Emergency Clinical Hospital, Bucharest, Romania, et al","year":"2023","journal-title":"RJMM"},{"issue":"5","key":"pone.0326686.ref009","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1111\/ced.13102","article-title":"Alpha\u20101\u2010antitrypsin deficiency\u2010related panniculitis: two cases with diverse clinical courses","volume":"42","author":"ER Storan","year":"2017","journal-title":"Clinical and Experimental Dermatology"},{"issue":"8","key":"pone.0326686.ref010","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1111\/ijd.14012","article-title":"Alpha-1 antitrypsin deficiency panniculitis: clinical and pathologic characteristics of 10 cases","volume":"57","author":"EF Johnson","year":"2018","journal-title":"Int J Dermatol"},{"issue":"4","key":"pone.0326686.ref011","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1159\/000202982","article-title":"New Findings in PiZZ alpha1-antitrypsin deficiency-related panniculitis. 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Part I. Mostly septal panniculitis.","volume":"45","author":"L Requena","year":"2001","journal-title":"Journal of the American Academy of Dermatology"},{"issue":"3","key":"pone.0326686.ref016","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1067\/mjd.2001.114735","article-title":"Panniculitis. Part II. 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