Clinical features of patients with connective tissue disease positive for anti-small ubiquitin-like modifier activating enzyme antibodies_West China Medical Journal

Authors：

LUO Zhongling ¹ , CUI Beibei ² ,  XIE Qibing ² , YIN Geng ²

1. West China School of Clinical Medicine, Sichuan University, Chengdu, Sichuan 610041, P. R. China;
2. Department of Rheumatology and Immunology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R. China;

Corresponding?author：

XIE Qibing, Email: xieqibing1971@163.com

Keywords：

Myositis-specific autoantibodies; anti-small ubiquitin-like modifier activating enzyme antibodies; connective tissue disease

DOI：

10.7507/1002-0179.202207133

Video：

Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables Video References Cited by

Objective To explore the clinical characteristics of patients with connective tissue disease with positive anti-small ubiquitin-like modifier activating enzyme (SAE) antibodies. Methods Retrospectively select the patients who completed the screening of myositis autoantibodies in West China Hospital of Sichuan University between January 1, 2015 and May 30, 2021. Meanwhile, patients with positive anti-SAE antibodies were screened out. According to the clinical data of anti-SAE antibodies positive patients, they were divided into the following groups: tumor group and non-tumor group, ILD group and non-ILD group, inflammatory myopathy group and non-inflammatory myopathy group. Clinical symptoms, signs, laboratory examinations, imaging examinations and other clinical data of the above patients were collected. Results A total of 1 594 patients were screened for myositis autoantibodies, of which 56 were positive for anti-SAE antibodies, with a positive rate of 3.5%. In 56 patients, 32.1% in skin involvement, 35.7% in muscle involvement, 12.5% in joint involvement, 5.4% in dysphagia, 5.4% in weight loss, 58.9% in patients with interstitial lung disease (ILD) and 12.5% in patients with tumor history. There was no significant difference in age, sex, skin involvement, muscle involvement, joint involvement and respiratory system involvement between the tumor group and the non-tumor group (P>0.05). Except for age, the frequency of muscle involvement, and positive rate of anti-Ro-52 antibody, there was no significant difference in other indicators between the ILD group and the non-ILD group (P>0.05). Except for the positive rate of ILD, the frequency of skin involvement, the frequency of muscle involvement, the level of creatine kinase and hydroxybutyrate dehydrogenase (P<0.05), there was no significant difference in other indexes between the non-inflammatory myopathy group and the inflammatory myopathy group (P>0.05). Conclusions The patients with positive anti-SAE antibodies mainly present skin and muscle symptoms, and are prone to ILD, malignant tumor and dysphagia. Patients with positive anti-SAE antibodies and ILD were older, had less muscle damage, and had a higher positive rate of anti-Ro-52 antibody. Anti-SAE antibodies appear not only in patients with inflammatory myopathy, but also in non-inflammatory myopathy, often associated with a higher frequency of ILD and less muscle involvement.

Citation： LUO Zhongling, CUI Beibei, XIE Qibing, YIN Geng. Clinical features of patients with connective tissue disease positive for anti-small ubiquitin-like modifier activating enzyme antibodies. West China Medical Journal, 2023, 38(1): 45-50. doi: 10.7507/1002-0179.202207133 Copy

1.	Betteridge Z, Tansley S, Shaddick G, et al. Frequency, mutual exclusivity and clinical associations of myositis autoantibodies in a combined European cohort of idiopathic inflammatory myopathy patients. J Autoimmun, 2019, 101: 48-55.
2.	Peterson LK, Jaskowski TD, La’ulu SL, et al. Antibodies to small ubiquitin-like modifier activating enzyme are associated with a diagnosis of dermatomyositis: results from an unselected cohort. Immunol Res, 2018, 66(3): 431-436.
3.	Betteridge Z, Gunawardena H, North J, et al. Identification of a novel autoantibody directed against small ubiquitin-like modifier activating enzyme in dermatomyositis. Arthritis Rheum, 2007, 56(9): 3132-3137.
4.	Tarricone E, Ghirardello A, Rampudda M, et al. Anti-SAE antibodies in autoimmune myositis: identification by unlabelled protein immunoprecipitation in an Italian patient cohort. J Immunol Methods, 2012, 384(1/2): 128-134.
5.	Zhao X. SUMO-mediated regulation of nuclear functions and signaling processes. Mol Cell, 2018, 71(3): 409-418.
6.	Betteridge ZE, Gunawardena H, Chinoy H, et al. Clinical and human leucocyte antigen class Ⅱ haplotype associations of autoantibodies to small ubiquitin-like modifier enzyme, a dermatomyositis-specific autoantigen target, in UK caucasian adult-onset myositis. Ann Rheum Dis, 2009, 68(10): 1621-1625.
7.	Fujimoto M, Matsushita T, Hamaguchi Y, et al. Autoantibodies to small ubiquitin-like modifier activating enzymes in Japanese patients with dermatomyositis: comparison with a UK caucasian cohort. Ann Rheum Dis, 2013, 72(1): 151-153.
8.	Muro Y, Sugiura K, Akiyama M. Low prevalence of anti-small ubiquitin-like modifier activating enzyme antibodies in dermatomyositis patients. Autoimmunity, 2013, 46(4): 279-284.
9.	Muro Y, Sugiura K, Nara M, et al. High incidence of cancer in anti-small ubiquitin-like modifier activating enzyme antibody-positive dermatomyositis. Rheumatology (Oxford), 2015, 54(9): 1745-1747.
10.	Tampoia M, Notarnicola A, Abbracciavento L, et al. A new immunodot assay for multiplex detection of autoantibodies in a cohort of italian patients with idiopathic inflammatory myopathies. J Clin Lab Anal, 2016, 30(6): 859-866.
11.	Ge Y, Lu X, Shu X, et al. Clinical characteristics of anti-SAE antibodies in Chinese patients with dermatomyositis in comparison with different patient cohorts. Sci Rep, 2017, 7(1): 188.
12.	Bodoki L, Nagy-Vincze M, Griger Z, et al. Four dermatomyositis-specific autoantibodies-anti-TIF1γ, anti-NXP2, anti-SAE and anti-MDA5-in adult and juvenile patients with idiopathic inflammatory myopathies in a Hungarian cohort. Autoimmun Rev, 2014, 13(12): 1211-1219.
13.	Albayda J, Mecoli C, Casciola-Rosen L, et al. A north american cohort of anti-sae dermatomyositis: clinical phenotype, testing, and review of cases. ACR Open Rheumatol, 2021, 3(5): 287-294.
14.	李珊珊, 葛永鵬, 楊闞波, 等. 皮肌炎患者 427 例肌炎特異性抗體譜及與臨床特征相關性分析. 中華風濕病學雜志, 2017, 21(9): 585-594.
15.	蔣寶淋, 田淑芬, 曹緒維. 肌炎特異性抗體與多發性肌炎/皮肌炎的研究進展. 安徽醫藥, 2022, 26(5): 855-859.
16.	王露露, 陳慧敏. 皮肌炎伴發腫瘤相關性研究進展. 國際神經病學神經外科學雜志, 2019, 46(3): 345-349.
17.	Ichikado K, Suga M, Müller NL, et al. Acute interstitial pneumonia: comparison of high-resolution computed tomography findings between survivors and nonsurvivors. Am J Respir Crit Care Med, 2002, 165(11): 1551-1556.
18.	謝曙光, 李玲, 李云珍, 等. 1728 例皮肌炎患者抗特異性肌炎譜抗體結果分析. 檢驗醫學與臨床, 2021, 18(21): 3124-3127,3131.
19.	Jia E, Wei J, Geng H, et al. Diffuse pruritic erythema as a clinical manifestation in anti-SAE antibody-associated dermatomyositis: a case report and literature review. Clin Rheumatol, 2019, 38(8): 2189-2193.
20.	Marz?cka M, Niemczyk A, Rudnicka L. Autoantibody markers of increased risk of malignancy in patients with dermatomyositis. Clin Rev Allergy Immunol, 2022, 63(2): 289-296.
21.	李富新, 賈蘭寧, 姚慶娟. 皮肌炎合并乳腺癌的研究進展. 繼續醫學教育. 2021, 35(8): 90-92.
22.	Gono T, Tanino Y, Nishikawa A, et al. Two cases with autoantibodies to small ubiquitin-like modifier activating enzyme: a potential unique subset of dermatomyositis-associated interstitial lung disease. Int J Rheum Dis, 2019, 22(8): 1582-1586.
23.	Zuo Y, Ye L, Liu M, et al. Clinical significance of radiological patterns of HRCT and their association with macrophage activation in dermatomyositis. Rheumatology (Oxford), 2020, 59(10): 2829-2837.
24.	王國春. 自身抗體在肌炎相關間質性肺疾病中的應用價值. 中華結核和呼吸雜志, 2022, 45(7): 632-634.
25.	Kishi T, Tani Y, Okiyama N, et al. Anti-SAE autoantibody-positive Japanese patient with juvenile dermatomyositis complicated with interstitial lung disease - a case report. Pediatr Rheumatol Online J, 2021, 19(1): 34.
26.	Tansley SL, Betteridge ZE, McHugh NJ. The diagnostic utility of autoantibodies in adult and juvenile myositis. Curr Opin Rheumatol, 2013, 25(6): 772-777.

1. Betteridge Z, Tansley S, Shaddick G, et al. Frequency, mutual exclusivity and clinical associations of myositis autoantibodies in a combined European cohort of idiopathic inflammatory myopathy patients. J Autoimmun, 2019, 101: 48-55.
2. Peterson LK, Jaskowski TD, La’ulu SL, et al. Antibodies to small ubiquitin-like modifier activating enzyme are associated with a diagnosis of dermatomyositis: results from an unselected cohort. Immunol Res, 2018, 66(3): 431-436.
3. Betteridge Z, Gunawardena H, North J, et al. Identification of a novel autoantibody directed against small ubiquitin-like modifier activating enzyme in dermatomyositis. Arthritis Rheum, 2007, 56(9): 3132-3137.
4. Tarricone E, Ghirardello A, Rampudda M, et al. Anti-SAE antibodies in autoimmune myositis: identification by unlabelled protein immunoprecipitation in an Italian patient cohort. J Immunol Methods, 2012, 384(1/2): 128-134.
5. Zhao X. SUMO-mediated regulation of nuclear functions and signaling processes. Mol Cell, 2018, 71(3): 409-418.
6. Betteridge ZE, Gunawardena H, Chinoy H, et al. Clinical and human leucocyte antigen class Ⅱ haplotype associations of autoantibodies to small ubiquitin-like modifier enzyme, a dermatomyositis-specific autoantigen target, in UK caucasian adult-onset myositis. Ann Rheum Dis, 2009, 68(10): 1621-1625.
7. Fujimoto M, Matsushita T, Hamaguchi Y, et al. Autoantibodies to small ubiquitin-like modifier activating enzymes in Japanese patients with dermatomyositis: comparison with a UK caucasian cohort. Ann Rheum Dis, 2013, 72(1): 151-153.
8. Muro Y, Sugiura K, Akiyama M. Low prevalence of anti-small ubiquitin-like modifier activating enzyme antibodies in dermatomyositis patients. Autoimmunity, 2013, 46(4): 279-284.
9. Muro Y, Sugiura K, Nara M, et al. High incidence of cancer in anti-small ubiquitin-like modifier activating enzyme antibody-positive dermatomyositis. Rheumatology (Oxford), 2015, 54(9): 1745-1747.
10. Tampoia M, Notarnicola A, Abbracciavento L, et al. A new immunodot assay for multiplex detection of autoantibodies in a cohort of italian patients with idiopathic inflammatory myopathies. J Clin Lab Anal, 2016, 30(6): 859-866.
11. Ge Y, Lu X, Shu X, et al. Clinical characteristics of anti-SAE antibodies in Chinese patients with dermatomyositis in comparison with different patient cohorts. Sci Rep, 2017, 7(1): 188.
12. Bodoki L, Nagy-Vincze M, Griger Z, et al. Four dermatomyositis-specific autoantibodies-anti-TIF1γ, anti-NXP2, anti-SAE and anti-MDA5-in adult and juvenile patients with idiopathic inflammatory myopathies in a Hungarian cohort. Autoimmun Rev, 2014, 13(12): 1211-1219.
13. Albayda J, Mecoli C, Casciola-Rosen L, et al. A north american cohort of anti-sae dermatomyositis: clinical phenotype, testing, and review of cases. ACR Open Rheumatol, 2021, 3(5): 287-294.
14. 李珊珊, 葛永鵬, 楊闞波, 等. 皮肌炎患者 427 例肌炎特異性抗體譜及與臨床特征相關性分析. 中華風濕病學雜志, 2017, 21(9): 585-594.
15. 蔣寶淋, 田淑芬, 曹緒維. 肌炎特異性抗體與多發性肌炎/皮肌炎的研究進展. 安徽醫藥, 2022, 26(5): 855-859.
16. 王露露, 陳慧敏. 皮肌炎伴發腫瘤相關性研究進展. 國際神經病學神經外科學雜志, 2019, 46(3): 345-349.
17. Ichikado K, Suga M, Müller NL, et al. Acute interstitial pneumonia: comparison of high-resolution computed tomography findings between survivors and nonsurvivors. Am J Respir Crit Care Med, 2002, 165(11): 1551-1556.
18. 謝曙光, 李玲, 李云珍, 等. 1728 例皮肌炎患者抗特異性肌炎譜抗體結果分析. 檢驗醫學與臨床, 2021, 18(21): 3124-3127,3131.
19. Jia E, Wei J, Geng H, et al. Diffuse pruritic erythema as a clinical manifestation in anti-SAE antibody-associated dermatomyositis: a case report and literature review. Clin Rheumatol, 2019, 38(8): 2189-2193.
20. Marz?cka M, Niemczyk A, Rudnicka L. Autoantibody markers of increased risk of malignancy in patients with dermatomyositis. Clin Rev Allergy Immunol, 2022, 63(2): 289-296.
21. 李富新, 賈蘭寧, 姚慶娟. 皮肌炎合并乳腺癌的研究進展. 繼續醫學教育. 2021, 35(8): 90-92.
22. Gono T, Tanino Y, Nishikawa A, et al. Two cases with autoantibodies to small ubiquitin-like modifier activating enzyme: a potential unique subset of dermatomyositis-associated interstitial lung disease. Int J Rheum Dis, 2019, 22(8): 1582-1586.
23. Zuo Y, Ye L, Liu M, et al. Clinical significance of radiological patterns of HRCT and their association with macrophage activation in dermatomyositis. Rheumatology (Oxford), 2020, 59(10): 2829-2837.
24. 王國春. 自身抗體在肌炎相關間質性肺疾病中的應用價值. 中華結核和呼吸雜志, 2022, 45(7): 632-634.
25. Kishi T, Tani Y, Okiyama N, et al. Anti-SAE autoantibody-positive Japanese patient with juvenile dermatomyositis complicated with interstitial lung disease - a case report. Pediatr Rheumatol Online J, 2021, 19(1): 34.
26. Tansley SL, Betteridge ZE, McHugh NJ. The diagnostic utility of autoantibodies in adult and juvenile myositis. Curr Opin Rheumatol, 2013, 25(6): 772-777.

West China Medical Journal

Clinical features of patients with connective tissue disease positive for anti-small ubiquitin-like modifier activating enzyme antibodies

Abstract Full text Figures/Tables Video References Cited by

Previous Article

Next Article

Format

Content