Diagnostic challenges of a rare disease with an unusual presentation

1 Hunnighake GW, Costabel U, Ando M, Baughman R, Cordier JF, du Bois R, et al. American Thoracic Society/European Respiratory Society/World Association of Sarcoidosis and other Granulomatous diseases. Statement on sarcoidosis. Sarcoidosis, Vasculitis, and Diffuse Lung Diseases. 1999;16: 149–173. Search in Google Scholar

2 Calender A, Weichhart T, Valeyre D, Pacheco Y. Current insights in genetics of sarcoidosis: functional and clinical impacts. Journal of Clinical Medicine. 2020;9(8): 2633. doi:10.3390/jcm9082633. Search in Google Scholar

3 Hofmann S, Franke A, Fischer A, Jacobs G, Nothnagel M, Gaede KI, et al. Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis. Nature Genetics. 2008;40: 1103–1106. doi:10.1038/ng.198. Search in Google Scholar

4 Tani C, D’Aniello D, Delle Sedie A, Carli L, Cagnoni M, Possemato N, et al. Rhupus syndrome: assessment of its prevalence and its clinical and instrumental characteristics in a prospective cohort of 103 SLE patients. Autoimmunity Reviews. 2013;12: 537–541. doi:10.1016/j.autrev.2012.09.004. Search in Google Scholar

5 Judson MA, Shapiro L, Fretias S, Polychronopoulos VS, Highland KB. Concomitant sarcoidosis and connective tissue disease: review of the clinical findings and postulations concerning their association. Respiratory Medicine. 2013;107: 1453–1459. doi:10.1016/j.rmed.2013.01.004. Search in Google Scholar

6 Siltzbach LE. The Kveim test in sarcoidosis. A study of 750 patients. The Journal of the American Medical Association. 1961;178: 476–482. doi:10.1001/jama.1961.03040440028006. Search in Google Scholar

7 Musaelyan A, Lapin S, Nazarov V, Tkachenko O, Gilburd B, Mazing A, et al. Vimentin as antigenic target in autoimmunity: a comprehensive review. Autoimmunity Reviews. 2018;17(9): 926–934. doi:10.1016/j.autrev.2018.04.004. Search in Google Scholar

8 Spagnolo P, Rossi G, Trisolini R, Sverzellati N, Baughman RP, Wells AU. Pulmonary sarcoidosis. Lancet Respir Med. 2018;6(5): 389–402. doi:10.1016/S2213-2600(18)30064-X. Search in Google Scholar

9 Kobak S, Sever F, Sivrikoz ON, Orman M. Sarcoidosis: is it only a mimicker of primary rheumatic disease? A single center experience. Therapeutic Advances in Musculoskeletal Disease. 2014;6: 3–7. doi:10.1177/1759720X13511197. Search in Google Scholar

10 Wu CH, Chung PI, Wu CY, Chen YT, Chiu YW, Chang YT, et al. Comorbid autoimmune diseases in patients with sarcoidosis: a nationwide case-control study in Taiwan. The Journal of Dermatology. 2017;44(4): 423–430. doi:10.1111/1346-8138.13654. Search in Google Scholar

11 Fazzi P, Fallahi P, Ferrari SM. Sarcoidosis and thyroid autoimmunity. Front Endocrinology. 2017;8: 177. doi:10.3389/fendo.2017.00177. Search in Google Scholar

12 Pettersson T. Rheumatic features of sarcoidosis. Current Opinion in Rheumatology. 1998;10: 73–78. doi:10.1097/00002281-199801000-00011. Search in Google Scholar

13 Torralba KD, Quismorio FP Jr. Sarcoid arthritis: a review of clinical features, pathology and therapy. Sarcoidosis, Vasculitis, and Diffuse Lung Diseases. 2003;20(2): 95–103. Search in Google Scholar

14 Stastny P. Association of the B-cell alloantigen DRw4 with rheumatoid arthritis. The New England Journal of Medicine. 1978;298: 869–871. doi:10.1056/NEJM197804202981602. Search in Google Scholar

15 Smith MJ, Turton CWG, Mitchell DN, Turner-Warwick M, Morris LM, Lawler SD. Association of HLA B8 with spontaneous resolution in sarcoidosis. Thorax. 1981;36: 296–298. doi:10.1136/thx.36.4.296. Search in Google Scholar

16 Calaras D, Munteanu O, Botnaru V. Sarcoidosis and tuberculosis: a rare combination? European Respiratory Journal. 2012;40(Suppl 56): 661s. Search in Google Scholar

17 Chambellan A, Turbie P, Nunes H, Brauner M, Battesti J-P, Valeyre D. Endoluminal stenosis of proximal bronchi in sarcoidosis: bronchoscopy, function, and evolution. Chest. 2005;127: 472–481. doi:10.1378/chest.127.2.472. Search in Google Scholar

18 Calaras D, Munteanu O, Scaletchi V, Simionica I, Botnaru V. Ventilatory disturbances in patients with intrathoracic sarcoidosis – a study from a functional and histological perspective. Sarcoidosis Vasculitis and Diffuse Lung Diseases. 2017;34: 58–67. doi: 10.36141/svdld.v34i1.5134. Search in Google Scholar

19 El Jammal T, Pavic M, Gerfaud-Valentin M, Jamilloux Y, Sève P. Sarcoidosis and cancer: a complex relationship. Frontiers in Medicine. 2020;7: 594118. Search in Google Scholar

20 Ohshimo S, Guzman J, Costabel U, Bonella F. Differential diagnosis of granulomatous lung disease: clues and pitfalls: number 4 in the Series “Pathology for the clinician” Edited by Peter Dorfmüller and Alberto Cavazza. European Respiratory Review. 2017;26(145): 170012. doi:10.1183/16000617.0012-2017. Search in Google Scholar

21 Hulten E, Aslam S, Osborne M, Abbasi S, Bittencourt MS, Blankstein R. Cardiac sarcoidosis-state of the art review. Cardiovascular Diagnosis and Therapy. 2016;6(1): 50–63. Search in Google Scholar

22 Serei VD, Fyfe B. The many faces of cardiac sarcoidosis. American Journal of Clinical Pathology. 2020;153(3): 294–302. doi:10.1093/ajcp/aqz169. Search in Google Scholar

23 Strambu IR. Challenges of cardiac sarcoidosis. Frontiers in Medicine. 2023;10: 999066. Search in Google Scholar

24 Facco M, Cabrelle A, Teramo A, Olivieri V, Gnoato M, Teolato S, et al. Sarcoidosis is a Th1/Th17 multisystem disorder. Thorax. 2011;66(2): 144–150. doi:10.1136/thx.2010.140319. Search in Google Scholar

25 Kosmaczewska A, Swierkot J, Ciszak L, Wiland P. [The role of Th1, Th17, and Treg cells in the pathogenesis of rheumatoid arthritis including anti-inflammatory action of Th1 cytokines]. Postepy Higieny I Medycyny Doswiadczalnej. 2011;65: 397–403. doi:10.5604/17322693.948971. Search in Google Scholar

26 El Jammal T, Jamilloux Y, Gerfaud-Valentin M, Valeyre D, Sève P. Refractory sarcoidosis: a review. Therapeutics and Clinical Risk Management. 2020;16: 323–345. doi:10.2147/TCRM.S192922. Search in Google Scholar