{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T19:01:57Z","timestamp":1784660517693,"version":"3.55.0"},"reference-count":20,"publisher":"BMJ","issue":"1","license":[{"start":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T00:00:00Z","timestamp":1784592000000},"content-version":"unspecified","delay-in-days":20,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008368","name":"Suomen Tuberkuloosin Vastustamisyhdistyksen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008368","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008309","name":"Hengityssairauksien Tutkimuss\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008309","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100018949","name":"Oulun Yliopistollinen Sairaala","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100018949","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011935","name":"Pohjois-Suomen Terveydenhuollon Tukis\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011935","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006706","name":"Tampereen Tuberkuloosis\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006706","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Open Resp Res"],"accepted":{"date-parts":[[2026,7,7]]},"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Familial sarcoidosis, a rare form of sarcoidosis involving multiple affected family members, is associated with a genetic predisposition.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>This retrospective cohort study aimed to compare the clinical features, organ involvement, treatment and outcomes between familial and sporadic sarcoidosis in a well-defined Finnish population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Data from 1130 patients with confirmed sarcoidosis diagnosed between 2008 and 2022 at Oulu University Hospital and Oulaskangas Hospital were analysed. Familial sarcoidosis was defined as disease occurring in at least one first-degree, second-degree or third-degree relative. Clinical characteristics, medication use and pulmonary function were compared between familial (n=68) and sporadic (n=1062) cases, with additional sex-specific analyses performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Result<\/jats:title>\n                    <jats:p>Familial sarcoidosis accounted for 6.0% of all confirmed cases and was more common in women and first-degree relatives. Compared with sporadic cases, familial sarcoidosis was associated with higher rates of ocular and renal involvement and more frequent multiorgan disease. Thoracic manifestations were equally common in both groups and pulmonary function over time was comparable between familial and sporadic sarcoidosis. Within the familial group, women had a trend towards more diverse extrapulmonary manifestations whereas men more frequently presented with concurrent pulmonary and lymph node involvement. There were no major sex-specific differences between familial and sporadic sarcoidosis patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>These findings indicate that familial sarcoidosis in the Oulu region constitutes a clinically recognisable subtype within the disease spectrum, warranting systematic family history assessment and further clinical and genetic research.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/bmjresp-2026-004128","type":"journal-article","created":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T18:30:17Z","timestamp":1784658617000},"page":"e004128","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical presentations of familial sarcoidosis: a retrospective cohort study from Finland"],"prefix":"10.1136","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-9607-7941","authenticated-orcid":false,"given":"Sini","family":"Koivu","sequence":"first","affiliation":[{"name":"Research Unit of Biomedicine and Internal Medicine, University of Oulu, Oulu, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aino","family":"Puhakka","sequence":"additional","affiliation":[{"name":"Research Unit of Biomedicine and Internal Medicine, University of Oulu, Oulu, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-7863-3447","authenticated-orcid":false,"given":"Jari","family":"Huovinen","sequence":"additional","affiliation":[{"name":"Research Unit of Biomedicine and Internal Medicine, University of Oulu, Oulu, Finland"},{"name":"Center of Internal and Respiratory Medicine and Medical Research Center (MRC) Oulu, Oulu University Hospital, Oulu, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inna","family":"Wath\u00e9n","sequence":"additional","affiliation":[{"name":"Research Unit of Biomedicine and Internal Medicine, University of Oulu, Oulu, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joakim","family":"Hulkkonen","sequence":"additional","affiliation":[{"name":"Research Unit of Biomedicine and Internal Medicine, University of Oulu, Oulu, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terttu","family":"Harju","sequence":"additional","affiliation":[{"name":"Research Unit of Biomedicine and Internal Medicine, University of Oulu, Oulu, Finland"},{"name":"Center of Internal and Respiratory Medicine and Medical Research Center (MRC) Oulu, Oulu University Hospital, Oulu, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannu","family":"V\u00e4h\u00e4nikkil\u00e4","sequence":"additional","affiliation":[{"name":"Northern Finland Birth Cohorts, Arctic Biobank, Infrastructure for Population studies, Faculty of Medicine, University of Oulu, Oulu, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Jaula","sequence":"additional","affiliation":[{"name":"Research Unit of Biomedicine and Internal Medicine, University of Oulu, Oulu, Finland"},{"name":"Center of Internal and Respiratory Medicine and Medical Research Center (MRC) Oulu, Oulu University Hospital, Oulu, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riitta","family":"Kaarteenaho","sequence":"additional","affiliation":[{"name":"Research Unit of Biomedicine and Internal Medicine, University of Oulu, Oulu, Finland"},{"name":"Center of Internal and Respiratory Medicine and Medical Research Center (MRC) Oulu, Oulu University Hospital, Oulu, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Lepp\u00e4nen","sequence":"additional","affiliation":[{"name":"Research Unit of Biomedicine and Internal Medicine, University of Oulu, Oulu, Finland"},{"name":"Center of Internal and Respiratory Medicine and Medical Research Center (MRC) Oulu, Oulu University Hospital, Oulu, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,7,21]]},"reference":[{"key":"2026072111301090000_13.1.e004128.1","doi-asserted-by":"publisher","DOI":"10.1136\/thx.2007.094060"},{"key":"2026072111301090000_13.1.e004128.2","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.00385-2018","article-title":"Familial aggregation and heritability of sarcoidosis: a Swedish nested case-control study","volume":"52","author":"Rossides","year":"2018","journal-title":"Eur Respir J"},{"key":"2026072111301090000_13.1.e004128.3","doi-asserted-by":"crossref","DOI":"10.3389\/fmed.2023.1132799","article-title":"Sex differences in the genetics of sarcoidosis across European and African ancestry populations","volume":"10","author":"Xiong","year":"2023","journal-title":"Front Med (Lausanne)"},{"key":"2026072111301090000_13.1.e004128.4","doi-asserted-by":"publisher","DOI":"10.1053\/rmed.1999.0579"},{"key":"2026072111301090000_13.1.e004128.5","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.164.11.2106001"},{"key":"2026072111301090000_13.1.e004128.6","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.rmed.2018.11.022","article-title":"Clinical epidemiology of familial sarcoidosis: A systematic literature review","volume":"149","author":"Terwiel","year":"2019","journal-title":"Respir Med"},{"key":"2026072111301090000_13.1.e004128.7","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-016-0546-4","article-title":"Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort","volume":"11","author":"Pacheco","year":"2016","journal-title":"Orphanet J Rare Dis"},{"key":"2026072111301090000_13.1.e004128.8","doi-asserted-by":"publisher","DOI":"10.1159\/000029225"},{"key":"2026072111301090000_13.1.e004128.9","doi-asserted-by":"publisher","DOI":"10.1378\/chest.130.3.855"},{"key":"2026072111301090000_13.1.e004128.10","doi-asserted-by":"crossref","DOI":"10.3390\/jpm16010024","article-title":"Uncovering Sex and Gender Differences in Sarcoidosis: A Systematic Review of Current Evidence","volume":"16","author":"Pianigiani","year":"2026","journal-title":"J Pers Med"},{"key":"2026072111301090000_13.1.e004128.11","doi-asserted-by":"crossref","DOI":"10.1136\/bmjresp-2024-002461","article-title":"National retrospective registry survey on the epidemiology of sarcoidosis in Finland 2002-2022","volume":"11","author":"Salonen","year":"2024","journal-title":"BMJ Open Respir Res"},{"key":"2026072111301090000_13.1.e004128.12","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1080\/00365518209168378","article-title":"Pulmonary Diffusing Capacity and Volumes in Healthy Adults Measured with the Single Breath Technique","volume":"42","author":"Viljanen","year":"1982","journal-title":"Scand J Clin Lab Invest"},{"key":"2026072111301090000_13.1.e004128.13","doi-asserted-by":"publisher","DOI":"10.1111\/cpf.12237"},{"key":"2026072111301090000_13.1.e004128.14","doi-asserted-by":"publisher","DOI":"10.1136\/thorax.55.9.751"},{"key":"2026072111301090000_13.1.e004128.15","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.164.10.2104046"},{"key":"2026072111301090000_13.1.e004128.16","doi-asserted-by":"crossref","first-page":"106688","DOI":"10.1016\/j.rmed.2021.106688","article-title":"Differences in disease presentation between men and women with sarcoidosis: A cohort study","volume":"191","author":"Lundkvist","year":"2022","journal-title":"Respir Med"},{"key":"2026072111301090000_13.1.e004128.17","doi-asserted-by":"crossref","DOI":"10.1016\/j.jacadv.2024.101102","article-title":"30-Year Trends in the Incidence, Characteristics, and Outcome of Cardiac Sarcoidosis in a Nationwide Cohort","volume":"3","author":"P\u00f6yh\u00f6nen","year":"2024","journal-title":"JACC Adv"},{"key":"2026072111301090000_13.1.e004128.18","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.04079-2020","article-title":"ERS clinical practice guidelines on treatment of sarcoidosis","volume":"58","author":"Baughman","year":"2021","journal-title":"Eur Respir J"},{"key":"2026072111301090000_13.1.e004128.19","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.ejim.2022.11.020","article-title":"Systemic treatment in sarcoidosis: Experience over two decades","volume":"108","author":"Fern\u00e1ndez-Ram\u00f3n","year":"2023","journal-title":"Eur J Intern Med"},{"key":"2026072111301090000_13.1.e004128.20","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1007\/s00408-016-9952-6","article-title":"Influence of Gender on Epidemiology and Clinical Manifestations of Sarcoidosis: A Population-Based Retrospective Cohort Study 1976-2013","volume":"195","author":"Ungprasert","year":"2017","journal-title":"Lung"}],"container-title":["BMJ Open Respiratory Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bmjresp-2026-004128","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T18:30:19Z","timestamp":1784658619000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmjopenrespres.bmj.com\/lookup\/doi\/10.1136\/bmjresp-2026-004128"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":20,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,7,21]]},"published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1136\/bmjresp-2026-004128"],"URL":"https:\/\/doi.org\/10.1136\/bmjresp-2026-004128","relation":{},"ISSN":["2052-4439"],"issn-type":[{"value":"2052-4439","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7]]}}}