Department of Internal Medicine, Caen University Hospital, Caen, France.
Department of Dermatology, Caen University Hospital, Caen, France.
Front Immunol. 2024 Jan 8;14:1319957. doi: 10.3389/fimmu.2023.1319957. eCollection 2023.
This study aimed to provide an updated analysis of the different prognostic trajectories of patients with anti-melanoma differentiation-associated gene 5 (MDA5) antibodies.
Among a cohort of 70 patients, baseline characteristics and phenotypes, treatments and outcomes were analyzed. A Cox proportional hazards model was used to identify factors associated with poor outcomes, i.e., death or progressive disease at the last follow-up.
Among the 70 patients, 45 were women, and 54 were Caucasian. A dermatologic involvement was observed in 58 (83%) patients, including 40 with MDA5 vasculopathy-related skin lesions. Muscular involvement was observed in 39 (56%) patients. Interstitial lung disease (ILD) was observed at baseline in 52 (74%) patients, including 23 (44%) who developed rapidly progressive (RP) ILD. Seven (10%) patients showed thromboembolic complications within the first weeks of diagnosis, and eight (11%) other patients developed a malignancy (4 before the diagnosis of anti-MDA5 disease). Poor outcomes were observed in 28 (40%) patients, including 13 (19%) deaths. Among the 23 patients with RP-ILD, 19 (79%) showed poor outcomes, including 12 (63%) who died. In multivariate analyses, RP-ILD (hazard ratio (HR), 95% CI: 8.24 [3.21-22], p<0.0001), the occurrence of thromboembolic events (HR: 5.22 [1.61-14.77], p=0.008) and the presence of any malignancy (HR: 19.73 [6.67-60], p<0.0001) were the three factors independently associated with poor outcomes.
This new independent cohort confirms the presence of different clinical phenotypes of anti-MDA5 diseases at baseline and the poor prognosis associated with RP-ILD. Thromboembolic events and malignancies were also identified as prognostic factors.
本研究旨在提供一项关于抗黑色素瘤分化相关基因 5（MDA5）抗体患者不同预后轨迹的最新分析。
在 70 名患者的队列中，分析了基线特征和表型、治疗和结局。使用 Cox 比例风险模型确定与不良结局相关的因素，即最后一次随访时死亡或进行性疾病。
在 70 名患者中，45 名女性，54 名白种人。58 名（83%）患者存在皮肤受累，其中 40 名存在 MDA5 血管病变相关皮肤损伤。39 名（56%）患者存在肌肉受累。52 名（74%）患者基线时有间质性肺病（ILD），其中 23 名（44%）发展为快速进展性（RP）ILD。7 名（10%）患者在诊断后的前几周内出现血栓栓塞并发症，8 名（11%）其他患者发生恶性肿瘤（4 名在诊断抗 MDA5 疾病之前）。28 名（40%）患者预后不良，包括 13 名（19%）死亡。在 23 名 RP-ILD 患者中，19 名（79%）预后不良，包括 12 名（63%）死亡。多变量分析显示，RP-ILD（风险比（HR），95%CI：8.24 [3.21-22]，p<0.0001）、血栓栓塞事件的发生（HR：5.22 [1.61-14.77]，p=0.008）和任何恶性肿瘤的存在（HR：19.73 [6.67-60]，p<0.0001）是与不良结局相关的三个独立因素。
这项新的独立队列证实了基线时存在不同的抗 MDA5 疾病临床表型，以及与 RP-ILD 相关的不良预后。血栓栓塞事件和恶性肿瘤也被确定为预后因素。
