Family aggregation and prevalence of other autoimmune diseases in SAPHO syndrome
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 il...
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| Format: | Article |
| Language: | English |
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Elsevier
2023-11-01
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| Series: | Heliyon |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844023087492 |
| _version_ | 1827615912718499840 |
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| author | Chen Li Hesong Wang Haixu Jiang Yuming Shao Guangrui Huang Kai Yuan Shufeng Wei |
| author_facet | Chen Li Hesong Wang Haixu Jiang Yuming Shao Guangrui Huang Kai Yuan Shufeng Wei |
| author_sort | Chen Li |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T09:18:24Z |
| format | Article |
| id | doaj.art-019d140069a7497288dbd330423bf4f5 |
| institution | Directory Open Access Journal |
| issn | 2405-8440 |
| language | English |
| last_indexed | 2024-03-09T09:18:24Z |
| publishDate | 2023-11-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Heliyon |
| spelling | doaj.art-019d140069a7497288dbd330423bf4f52023-12-02T07:02:42ZengElsevierHeliyon2405-84402023-11-01911e21541Family aggregation and prevalence of other autoimmune diseases in SAPHO syndromeChen Li0Hesong Wang1Haixu Jiang2Yuming Shao3Guangrui Huang4Kai Yuan5Shufeng Wei6Department of Rheumatology, Fangshan Hospital Beijing University of Chinese Medicine, Beijing, China; Department of Traditional Chinese Medicine, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Corresponding author. Department of Rheumatology, Fangshan Hospital Beijing University of Chinese Medicine, Beijing, China.School of Life Sciences, Beijing University of Chinese Medicine, Beijing, ChinaSchool of Chinese Materia, Beijing University of Chinese Medicine, Beijing, ChinaInstitute of Clinical Medicine, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, ChinaSchool of Life Sciences, Beijing University of Chinese Medicine, Beijing, ChinaSchool of Life Sciences, Beijing University of Chinese Medicine, Beijing, China; Corresponding author. School of Life Sciences, Beijing University of Chinese Medicine, Beijing, China.Department of Rheumatology, Fangshan Hospital Beijing University of Chinese Medicine, Beijing, China; Corresponding author. Department of Rheumatology, Fangshan Hospital Beijing University of Chinese Medicine, Beijing, China.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.http://www.sciencedirect.com/science/article/pii/S2405844023087492SAPHO syndromeFamilial aggregationAutoimmune diseaseRheumatoid arthritis |
| spellingShingle | Chen Li Hesong Wang Haixu Jiang Yuming Shao Guangrui Huang Kai Yuan Shufeng Wei Family aggregation and prevalence of other autoimmune diseases in SAPHO syndrome Heliyon SAPHO syndrome Familial aggregation Autoimmune disease Rheumatoid arthritis |
| title | Family aggregation and prevalence of other autoimmune diseases in SAPHO syndrome |
| title_full | Family aggregation and prevalence of other autoimmune diseases in SAPHO syndrome |
| title_fullStr | Family aggregation and prevalence of other autoimmune diseases in SAPHO syndrome |
| title_full_unstemmed | Family aggregation and prevalence of other autoimmune diseases in SAPHO syndrome |
| title_short | Family aggregation and prevalence of other autoimmune diseases in SAPHO syndrome |
| title_sort | family aggregation and prevalence of other autoimmune diseases in sapho syndrome |
| topic | SAPHO syndrome Familial aggregation Autoimmune disease Rheumatoid arthritis |
| url | http://www.sciencedirect.com/science/article/pii/S2405844023087492 |
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