biostudies-literatureLi CNational Natural Science Foundation of Chinae21541https://www.ebi.ac.uk/biostudies/studies/S-EPMC10654150biostudies-literatureUnknown9(11)<h4>Objective</h4>SAPHO (Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) syndrome is a heterogeneous disease that clinically manifests as chronic inflammatory osteoarticular and dermatological lesions. Few reports have described familial clustering of SAPHO syndrome cases. This research aimed to illustrate the family aggregation of SAPHO syndrome and investigate the prevalence of autoimmune disorders among SAPHO syndrome patients and first-degree relatives in a large cohort.<h4>Methods</h4>We retrospectively reviewed the medical records of 233 SAPHO patients diagnosed at Peking Union Medical College Hospital. Direct phone calls were made to each first-degree relatives. All relatives of the patients who reported SAPHO syndrome were asked for a detailed outpatient evaluation.<h4>ResuHeliyonFamily aggregation and prevalence of other autoimmune diseases in SAPHO syndrome.PMC1065415082074246Li CShao YHuang GJiang HWei SYuan KWang HfalseFamily aggregation and prevalence of other autoimmune diseases in SAPHO syndrome.<h4>Objective</h4>SAPHO (Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) syndrome is a heterogeneous disease that clinically manifests as chronic inflammatory osteoarticular and dermatological lesions. Few reports have described familial clustering of SAPHO syndrome cases. This research aimed to illustrate the family aggregation of SAPHO syndrome and investigate the prevalence of autoimmune disorders among SAPHO syndrome patients and first-degree relatives in a large cohort.<h4>Methods</h4>We retrospectively reviewed the medical records of 233 SAPHO patients diagnosed at Peking Union Medical College Hospital. Direct phone calls were made to each first-degree relatives. All relatives of the patients who reported SAPHO syndrome were asked for a detailed outpatient evaluation.<h4>Resu2023-01-01T00:00:00Z2023 Nov2026-05-29T00:14:33.327Z2025-02-19T00:38:59.223ZS-EPMC106541503802768810.1016/j.heliyon.2023.e21541