SAPHO综合征的诊断及治疗(附8例分析)
摘要
目的探讨SAPHO综合征的有效诊断、治疗方法。方法对8例确诊的SAPHO综合征患者的临床、影像及治疗资料进行回顾性分析。结果 8例患者中,6例有典型皮肤表现即掌跖脓疱疮并累及前胸壁骨关节;5例血沉和(或)C反应蛋白升高;所有患者HLA-B27阴性;均行ECT-全身骨显像检查,提示受累骨关节放射性浓聚影;1例进行骨组织检查,提示活检部位炎细胞浸润,未见肿瘤细胞。患者均给予非甾体抗炎药,多数联合甲氨喋呤的患者初期治疗效果较好,2例联合使用非甾体类抗炎药、甲氨蝶呤和糖皮质激素者症状缓解明显,1例难治性患者加用TNF-α拮抗剂英夫利昔单抗治疗8个月,期间病情稳定。结论 SAPHO综合征的诊断主要基于其骨关节炎和(或)骨肥厚伴掌跖脓疱病的临床表现,辅以实验室检查排除感染、骨肿瘤及其他临床表现相似的风湿免疫疾病。ECT-全身骨显像检查对于诊断有重要参考价值。非甾体抗炎药联合激素及甲氨蝶呤治疗效果显著,难治性SAPHO综合征可加用英夫利昔单抗治疗。
引文
[1] Chamot AM, Benhamou CL, Kahn MF, et al. Acne-pustulosis-hyperostosis-osteitis syndrome. results of a national survey. 85 cases[J]. Rev Rhum Mal Osteoartic, 1987,54(3):187-196.
[2] Henriques CC, Sousa M, Panarra A. The dark side of SAPHO syndrome[J]. BMJ Case Rep, 2011,21(12):2011.
[3] Colina M, Govoni M, Orzincolo C, et al. Clinical and radiologic evolution of synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome: a single center study of a cohort of 71 subjects[J]. Arthritis Rheum, 2009,61(6):813-821.
[4] Hurtado-Nedelec M, Chollet-Martin S, Nicaise-Roland P, et al. Characterization of the immune response in the synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome[J]. Rheumatology, 2008,47(8):1160-1167.
[5] Zhang S, Li C, Zhang S, et al. Serum levels of proinflammatory, anti-inflammatory cytokines and RANKL/OPG in synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome[J]. Mod Rheumatol, 2018,6:1-8.
[6] Schaub S, Sirkis HM. Imaging for synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome[J]. Rheum Dis Clin North Am, 2016,42(4):695-710.
[7] Hurtado-Nedelec M, Chollet-Martin S, Chapeton D, et al. Genetic susceptibility 2 factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes[J]. J Rheumatol, 2010,37(2):401-409.
[8] Adamo S, Nilsson J, Krebs A, et al. Successful treatment of SAPHO syndrome with apremilast[J]. Br J Dermatol, 2018,179(4): 959-962.
[9] Jurik AG, Klicman RF, Simoni P, et al. SAPHO and CRMO: the value of imaging[J]. Semin Musculoskelet Radiol, 2018,22(2):207-224.
[10] Cianci F, Zoli A, Gremese E. Clinical heterogeneity of SAPHO syndrome: challenging diagnose and treatment[J]. Clin Rheumatol, 2017,36(9):2151-2158.
[11] Okuno H, Watanuki M, Kuwahara Y, et al. Clinical features and radiological findings of 67 patients with SAPHO syndrome[J]. Mod Rheumatol, 2018,28(4): 703-708.
[12] Nguyen MT, Borchers A, Selmi C, et al. The SAPHO syndrome[J]. Semin Arthritis Rheum, 2012,42(3):254-265.
[13] Paparo F, Revelli M, Semprini A, et al. Seronegative spondyloarthropathies: what radiologists should know[J]. Radiol Med, 2014,119(3):156-163.
[14] Schaub S, Sirkis HM. Imaging for synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome[J]. Rheum Dis Clin North Am, 2016,42(4):695-710.
[15] Li C, Cao Y, Zhang W. Clinical heterogeneity of SAPHO syndrome: challenge of diagnosis[J]. Mod Rheumatol, 2018,28(3):432-434.
[16] 李忱,王景,史小虎,等.35例难治性SAPHO综合征患者应用肿瘤坏死因子α拮抗剂的治疗随访[J].临床荟萃,2016,31(1):45-47.
[17] Rozin AP. SAPHO syndrome: is a range of pathogen-associated rheumatic diseases extended[J]. Arthritis Res Ther, 2009,11(6):131.
[18] Colina M, Pizzirani C, Khodeir M, et al. Dysregulation of P2X7 receptor-inflammasome axis in SAPHO syndrome: successful treatment with anakinra[J]. Rheumatology, 2010,49(7):1416-1418.
[2] Henriques CC, Sousa M, Panarra A. The dark side of SAPHO syndrome[J]. BMJ Case Rep, 2011,21(12):2011.
[3] Colina M, Govoni M, Orzincolo C, et al. Clinical and radiologic evolution of synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome: a single center study of a cohort of 71 subjects[J]. Arthritis Rheum, 2009,61(6):813-821.
[4] Hurtado-Nedelec M, Chollet-Martin S, Nicaise-Roland P, et al. Characterization of the immune response in the synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome[J]. Rheumatology, 2008,47(8):1160-1167.
[5] Zhang S, Li C, Zhang S, et al. Serum levels of proinflammatory, anti-inflammatory cytokines and RANKL/OPG in synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome[J]. Mod Rheumatol, 2018,6:1-8.
[6] Schaub S, Sirkis HM. Imaging for synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome[J]. Rheum Dis Clin North Am, 2016,42(4):695-710.
[7] Hurtado-Nedelec M, Chollet-Martin S, Chapeton D, et al. Genetic susceptibility 2 factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes[J]. J Rheumatol, 2010,37(2):401-409.
[8] Adamo S, Nilsson J, Krebs A, et al. Successful treatment of SAPHO syndrome with apremilast[J]. Br J Dermatol, 2018,179(4): 959-962.
[9] Jurik AG, Klicman RF, Simoni P, et al. SAPHO and CRMO: the value of imaging[J]. Semin Musculoskelet Radiol, 2018,22(2):207-224.
[10] Cianci F, Zoli A, Gremese E. Clinical heterogeneity of SAPHO syndrome: challenging diagnose and treatment[J]. Clin Rheumatol, 2017,36(9):2151-2158.
[11] Okuno H, Watanuki M, Kuwahara Y, et al. Clinical features and radiological findings of 67 patients with SAPHO syndrome[J]. Mod Rheumatol, 2018,28(4): 703-708.
[12] Nguyen MT, Borchers A, Selmi C, et al. The SAPHO syndrome[J]. Semin Arthritis Rheum, 2012,42(3):254-265.
[13] Paparo F, Revelli M, Semprini A, et al. Seronegative spondyloarthropathies: what radiologists should know[J]. Radiol Med, 2014,119(3):156-163.
[14] Schaub S, Sirkis HM. Imaging for synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome[J]. Rheum Dis Clin North Am, 2016,42(4):695-710.
[15] Li C, Cao Y, Zhang W. Clinical heterogeneity of SAPHO syndrome: challenge of diagnosis[J]. Mod Rheumatol, 2018,28(3):432-434.
[16] 李忱,王景,史小虎,等.35例难治性SAPHO综合征患者应用肿瘤坏死因子α拮抗剂的治疗随访[J].临床荟萃,2016,31(1):45-47.
[17] Rozin AP. SAPHO syndrome: is a range of pathogen-associated rheumatic diseases extended[J]. Arthritis Res Ther, 2009,11(6):131.
[18] Colina M, Pizzirani C, Khodeir M, et al. Dysregulation of P2X7 receptor-inflammasome axis in SAPHO syndrome: successful treatment with anakinra[J]. Rheumatology, 2010,49(7):1416-1418.