Severe gastrointestinal involvements in patients with adult dermatomyositis with anti-NXP2 antibody
Objective Gastrointestinal (GI) involvements were scarcely reported in adult anti-nuclear matrix protein 2 (NXP2) dermatomyositis (NXP2+DM). In this study, we investigated the clinical, pathological and molecular features as well as treatment options of this rare yet life-threatening disease.Methods...
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BMJ Publishing Group
2024-02-01
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| Series: | RMD Open |
| Online Access: | https://rmdopen.bmj.com/content/10/1/e003901.full |
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| author | Zhiwei Chen Xiaodong Wang Shuang Ye Qi Feng Qiong Fu Jie Chen Liyang Gu Jie Fan Yuting Dai Yakai Fu Mingshi Gao |
| author_facet | Zhiwei Chen Xiaodong Wang Shuang Ye Qi Feng Qiong Fu Jie Chen Liyang Gu Jie Fan Yuting Dai Yakai Fu Mingshi Gao |
| author_sort | Zhiwei Chen |
| collection | DOAJ |
| description | Objective Gastrointestinal (GI) involvements were scarcely reported in adult anti-nuclear matrix protein 2 (NXP2) dermatomyositis (NXP2+DM). In this study, we investigated the clinical, pathological and molecular features as well as treatment options of this rare yet life-threatening disease.Methods We retrospectively collected the data of the cohort of NXP2+ DM from 2012 to 2022 in our hospital. RNA sequencing was performed in intestinal samples of perforated patients compared with healthy controls data set.Results A total of 56 patients with adult NXP2+DM were collected including 10 cases with GI involvements. Abdominal pain and melena were the initial manifestations for GI involvements with a median 10-month time lag after the diagnosis of NXP2+DM when myositis largely subsided. Within weeks, GI perforation occurred in 8 of 10 patients, while five patients underwent eight surgical interventions subsequently. The short-term mortality was observed in four patients. NXP2+DM with GI involvements presented with more extramuscular systemic manifestations such as interstitial lung disease and subcutaneous calcinosis. The GI pathological features encompassed vasculitis/vasculopathy with high MxA expression, intestinal smooth muscle necrosis and serosal calcinosis. Gene expression profile validated the type-I interferon activation and revealed that epithelial mesenchymal transition and focal adhesion pathway may also contribute. Finally, vedolizumab, an anti-α4β7-integrin monoclonal antibody, exhibited promising therapeutic signals which should be further investigated.Conclusions GI involvement is a unique complication in patients with adult NXP2+DM. Timely recognition and targeted therapy may turn out to be lifesaving. |
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| language | English |
| last_indexed | 2024-04-24T13:16:37Z |
| publishDate | 2024-02-01 |
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| series | RMD Open |
| spelling | doaj.art-e2d93d2ee5814854b66e5c400f5cb0b22024-04-04T17:35:08ZengBMJ Publishing GroupRMD Open2056-59332024-02-0110110.1136/rmdopen-2023-003901Severe gastrointestinal involvements in patients with adult dermatomyositis with anti-NXP2 antibodyZhiwei Chen0Xiaodong Wang1Shuang Ye2Qi Feng3Qiong Fu4Jie Chen5Liyang Gu6Jie Fan7Yuting Dai8Yakai Fu9Mingshi Gao10Department of Rheumatology, Shanghai Jiao Tong University School of Medicine Affiliated Renji Hospital, Shanghai, ChinaDepartment of Rheumatology, Shanghai Jiao Tong University School of Medicine Affiliated Renji Hospital, Shanghai, ChinaDepartment of Rheumatology, Shanghai Jiao Tong University School of Medicine Affiliated Renji Hospital, Shanghai, ChinaDepartment of Radiology, Shanghai Jiao Tong University School of Medicine Affiliated Renji Hospital, Shanghai, ChinaDepartment of Rheumatology, Shanghai Jiao Tong University School of Medicine Affiliated Renji Hospital, Shanghai, ChinaDepartment of Ultrasound in Medicine, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute of Ultrasound in Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaDepartment of Rheumatology, Shanghai Jiao Tong University School of Medicine Affiliated Renji Hospital, Shanghai, ChinaDepartment of Pathology, Huashan Hospital Fudan University, Shanghai, ChinaShanghai Jiao Tong University Medical School Affiliated Ruijin Hospital, Shanghai, ChinaDepartment of Rheumatology, Shanghai Jiao Tong University School of Medicine Affiliated Renji Hospital, Shanghai, ChinaDepartment of Pathology, Huashan Hospital Fudan University, Shanghai, ChinaObjective Gastrointestinal (GI) involvements were scarcely reported in adult anti-nuclear matrix protein 2 (NXP2) dermatomyositis (NXP2+DM). In this study, we investigated the clinical, pathological and molecular features as well as treatment options of this rare yet life-threatening disease.Methods We retrospectively collected the data of the cohort of NXP2+ DM from 2012 to 2022 in our hospital. RNA sequencing was performed in intestinal samples of perforated patients compared with healthy controls data set.Results A total of 56 patients with adult NXP2+DM were collected including 10 cases with GI involvements. Abdominal pain and melena were the initial manifestations for GI involvements with a median 10-month time lag after the diagnosis of NXP2+DM when myositis largely subsided. Within weeks, GI perforation occurred in 8 of 10 patients, while five patients underwent eight surgical interventions subsequently. The short-term mortality was observed in four patients. NXP2+DM with GI involvements presented with more extramuscular systemic manifestations such as interstitial lung disease and subcutaneous calcinosis. The GI pathological features encompassed vasculitis/vasculopathy with high MxA expression, intestinal smooth muscle necrosis and serosal calcinosis. Gene expression profile validated the type-I interferon activation and revealed that epithelial mesenchymal transition and focal adhesion pathway may also contribute. Finally, vedolizumab, an anti-α4β7-integrin monoclonal antibody, exhibited promising therapeutic signals which should be further investigated.Conclusions GI involvement is a unique complication in patients with adult NXP2+DM. Timely recognition and targeted therapy may turn out to be lifesaving.https://rmdopen.bmj.com/content/10/1/e003901.full |
| spellingShingle | Zhiwei Chen Xiaodong Wang Shuang Ye Qi Feng Qiong Fu Jie Chen Liyang Gu Jie Fan Yuting Dai Yakai Fu Mingshi Gao Severe gastrointestinal involvements in patients with adult dermatomyositis with anti-NXP2 antibody RMD Open |
| title | Severe gastrointestinal involvements in patients with adult dermatomyositis with anti-NXP2 antibody |
| title_full | Severe gastrointestinal involvements in patients with adult dermatomyositis with anti-NXP2 antibody |
| title_fullStr | Severe gastrointestinal involvements in patients with adult dermatomyositis with anti-NXP2 antibody |
| title_full_unstemmed | Severe gastrointestinal involvements in patients with adult dermatomyositis with anti-NXP2 antibody |
| title_short | Severe gastrointestinal involvements in patients with adult dermatomyositis with anti-NXP2 antibody |
| title_sort | severe gastrointestinal involvements in patients with adult dermatomyositis with anti nxp2 antibody |
| url | https://rmdopen.bmj.com/content/10/1/e003901.full |
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