Family aggregation and prevalence of other autoimmune diseases in SAPHO syndrome

Chen Li; Hesong Wang; Haixu Jiang; Yuming Shao; Guangrui Huang; Kai Yuan; Shufeng Wei

doi:10.1016/j.heliyon.2023.e21541

Family aggregation and prevalence of other autoimmune diseases in SAPHO syndrome

Heliyon. 2023 Nov 2;9(11):e21541. doi: 10.1016/j.heliyon.2023.e21541. eCollection 2023 Nov.

Authors

Chen Li^{1

2}, Hesong Wang³, Haixu Jiang⁴, Yuming Shao⁵, Guangrui Huang³, Kai Yuan³, Shufeng Wei¹

Affiliations

¹ Department of Rheumatology, Fangshan Hospital Beijing University of Chinese Medicine, Beijing, China.
² Department of Traditional Chinese Medicine, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
³ School of Life Sciences, Beijing University of Chinese Medicine, Beijing, China.
⁴ School of Chinese Materia, Beijing University of Chinese Medicine, Beijing, China.
⁵ Institute of Clinical Medicine, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.

Abstract

Objective: 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.

Methods: 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.

Results: A total of 233 patients and 1227 first-degree relatives were recruited. Six (2.6 %) patients had positive SAPHO family history, including four mother-daughter pairs and two sister pairs. Twenty-one (9.0 %) patients presented at least one kind of autoimmune disease, including 12 rheumatoid arthritis and 4 ulcerative colitis cases. Fifty-eight (24.9 %) SAPHO syndrome patients had 68 (5.5 %) first-degree relatives with at least one autoimmune disorder. The palmoplantar pustulosis, psoriasis vulgaris, and rheumatoid arthritis prevalence in our subjects were each higher than reference rates.

Conclusion: This is the first evaluation of familial aggregation for SAPHO syndrome in a large cohort. SAPHO syndrome has a weak familial aggregation. There is a relatively high prevalence of coexisting autoimmune disease among patients with SAPHO syndrome and their first-degree relatives. These results would prompt physicians to screen SAPHO syndrome patients and their family members for concomitant autoimmune diseases.

Keypoints: This study suggesting a potential genetic component in the pathogenesis of SAPHO syndrome. This study is the first to evaluate the family aggregation of SAPHO syndrome in a large cohort.

Keywords: Autoimmune disease; Familial aggregation; Rheumatoid arthritis; SAPHO syndrome.