Shanghai Jiao Tong University School of Medicine Affiliated Renji Hospital, Shanghai, China.
Department of Rheumatology, Shanghai Jiao Tong University School of Medicine Affiliated Renji Hospital, Shanghai, China.
RMD Open. 2024 Jan 10;10(1):e003901. doi: 10.1136/rmdopen-2023-003901.
Gastrointestinal (GI) involvements were scarcely reported in adult anti-nuclear matrix protein 2 (NXP2) dermatomyositis (NXP2DM). In this study, we investigated the clinical, pathological and molecular features as well as treatment options of this rare yet life-threatening disease.
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.
A total of 56 patients with adult NXP2DM 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 NXP2DM 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. NXP2DM 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.
GI involvement is a unique complication in patients with adult NXP2+DM. Timely recognition and targeted therapy may turn out to be lifesaving.
成人抗核基质蛋白 2（NXP2）皮肌炎（NXP2DM）中胃肠道（GI）受累鲜有报道。本研究旨在探讨这一罕见但危及生命的疾病的临床、病理和分子特征以及治疗选择。
我们回顾性收集了 2012 年至 2022 年我院成人 NXP2DM 队列患者的数据。对穿孔患者的肠道样本进行 RNA 测序，并与健康对照组数据集进行比较。
共收集了 56 例成人 NXP2DM 患者，其中 10 例有 GI 受累。腹痛和黑便为 GI 受累的首发表现，距 NXP2DM 诊断后中位 10 个月时肌炎明显缓解。在数周内，10 例患者中有 8 例发生 GI 穿孔，随后 5 例患者接受了 8 次手术干预。4 例患者出现短期死亡。有 GI 受累的 NXP2DM 患者表现出更多的肌外全身表现，如间质性肺病和皮下钙沉积。GI 病理特征包括血管炎/血管病伴高 MxA 表达、肠平滑肌坏死和浆膜钙沉积。基因表达谱验证了 I 型干扰素的激活，并表明上皮间质转化和黏附斑通路也可能起作用。最后，抗-α4β7 整合素单克隆抗体 vedolizumab 显示出有希望的治疗信号，值得进一步研究。
GI 受累是成人 NXP2+DM 患者的一种独特并发症。及时识别和靶向治疗可能具有救命作用。
