Clinical phenotypes of extra-pulmonary sarcoidosis. The EpiSarc study

Introduction: Although the clinical expression of sarcoidosis in each organ has been well described, there are few data on the associations among the various disorders. Methods: 1237 patients (45% men, mean age=43.5±13 yrs) were recruited through the French Medical Information Systems Program (PMSI) databases from January 2013 to December 2016. Medical records were reviewed by a panel of experts to validate inclusion criteria (sarcoidosis with histological documentation and at least one extra-pulmonary disease, or Lofgren9s syndrome) and determine patient characteristics. Results: Cluster analysis identified 5 phenotypes. Cluster 1 (n=180) associating erythema nodosum and joint involvement, characterized by female sex (F:M ratio=2.4), being more European (51%) and less manual workers (30%). This phenotype was the less treated (corticotherapy (53% of cases), anti-TNF alfa (4%)). Cluster 2 (n=137) associating nervous system involvement and uveitis, characterized by being mainly European (62.5%), men (F:M=1.3) and manual workers (44%). Cluster 3 (n=630) identified a preferential association of pulmonary lesions, sometimes fibrosing, with cardiac lesions associated mainly with a 1.1 F:M ratio, being manual workers (46%) and non-European (58%). Cluster 4 (n=41) marked by the presence of lupus pernio occurring more in non-Europeans (80%). This was the most commonly treated phenotype (corticotherapy (88%), anti-TNF alfa (41%)). Cluster 5 (n=249) associating hepato-splenic involvement with extra-mediastinal lymphadenopathy, characterized by being mainly non-European (62.5%), women (F:M=1.1) and manual workers (35%). Conclusion: We identified 5 clinical phenotypes of sarcoidosis with distinct demographic features and outcomes.