Hum Ryan Malcolm, Lilleker James B, Lamb Janine A, Oldroyd Alexander G S, Wang Guochun, Wedderburn Lucy R, Diederichsen Louise P, Schmidt Jens, Danieli Maria Giovanna, Oakley Paula, Griger Zoltan, Nguyen Thi Phuong Thuy, Kodishala Chanakya, Vazquez-Del Mercado Monica, Andersson Helena, De Paepe Boel, De Bleecker Jan L, Maurer Britta, McCann Liza, Pipitone Nicolo, McHugh Neil, New Robert Paul, Ollier William E, Krogh Niels Steen, Vencovsky Jiri, Lundberg Ingrid E, Chinoy Hector
Centre for Musculoskeletal Research, Division of Musculoskeletal & Dermatological Sciences, The University of Manchester Faculty of Biology Medicine and Health, Manchester, UK.
The University of Manchester, National Institute for Health Research Manchester Biomedical Research Centre, Manchester, UK.
Rheumatology (Oxford). 2024 Aug 1;63(8):2093-2100. doi: 10.1093/rheumatology/kead481.
To compare clinical characteristics, including the frequency of cutaneous, extramuscular manifestations and malignancy, between adults with anti-synthetase syndrome (ASyS) and DM.
Using data regarding adults from the MYONET registry, a cohort of DM patients with anti-Mi2/-TIF1γ/-NXP2/-SAE/-MDA5 autoantibodies, and a cohort of ASyS patients with anti-tRNA synthetase autoantibodies (anti-Jo1/-PL7/-PL12/-OJ/-EJ/-Zo/-KS) were identified. Patients with DM sine dermatitis or with discordant dual autoantibody specificities were excluded. Sub-cohorts of patients with ASyS with or without skin involvement were defined based on presence of DM-type rashes (heliotrope rash, Gottron's papules/sign, violaceous rash, shawl sign, V-sign, erythroderma, and/or periorbital rash).
In total 1054 patients were included (DM, n = 405; ASyS, n = 649). In the ASyS cohort, 31% (n = 203) had DM-type skin involvement (ASyS-DMskin). A higher frequency of extramuscular manifestations, including Mechanic's hands, Raynaud's phenomenon, arthritis, interstitial lung disease and cardiac involvement differentiated ASyS-DMskin from DM (all P < 0.001), whereas higher frequency of any of four DM-type rashes-heliotrope rash (n = 248, 61% vs n = 90, 44%), violaceous rash (n = 166, 41% vs n = 57, 9%), V-sign (n = 124, 31% vs n = 28, 4%), and shawl sign (n = 133, 33% vs n = 18, 3%)-differentiated DM from ASyS-DMskin (all P < 0.005). Cancer-associated myositis (CAM) was more frequent in DM (n = 67, 17%) compared with ASyS (n = 21, 3%) and ASyS-DMskin (n = 7, 3%) cohorts (both P < 0.001).
DM-type rashes are frequent in patients with ASyS; however, distinct clinical manifestations differentiate these patients from classical DM. Skin involvement in ASyS does not necessitate increased malignancy surveillance. These findings will inform future ASyS classification criteria and patient management.
比较抗合成酶综合征（ASyS）成人患者与皮肌炎（DM）成人患者的临床特征，包括皮肤、肌肉外表现及恶性肿瘤的发生频率。
利用来自MYONET注册研究中成人患者的数据，确定一组具有抗Mi2/-TIF1γ/-NXP2/-SAE/-MDA5自身抗体的DM患者队列，以及一组具有抗tRNA合成酶自身抗体（抗Jo1/-PL7/-PL12/-OJ/-EJ/-Zo/-KS）的ASyS患者队列。排除无皮肤炎的DM患者或具有不一致双重自身抗体特异性的患者。根据是否存在DM型皮疹（向阳疹、Gottron丘疹/征、紫罗兰色皮疹、披肩征、V征、红皮病和/或眶周皮疹）定义有或无皮肤受累的ASyS患者亚组。
共纳入1054例患者（DM患者405例；ASyS患者649例）。在ASyS队列中，31%（n = 203）有DM型皮肤受累（ASyS-DMskin）。包括技工手、雷诺现象、关节炎、间质性肺病和心脏受累在内的肌肉外表现的发生率较高，使ASyS-DMskin与DM得以区分（所有P < 0.001），而四种DM型皮疹中的任何一种——向阳疹（n = 248，61%对n = 90，44%）、紫罗兰色皮疹（n = 166，41%对n = 57，9%）、V征（n = 124，31%对n = 28，4%）和披肩征（n = 133，33%对n = 18，3%）的较高发生率使DM与ASyS-DMskin得以区分（所有P < 0.005）。与ASyS队列（n = 21，3%）和ASyS-DMskin队列（n = 7，3%）相比，癌症相关性肌炎（CAM）在DM队列中更常见（n = 67，17%）（两者P < 0.001）。
DM型皮疹在ASyS患者中很常见；然而，不同的临床表现使这些患者与经典DM患者区分开来。ASyS患者的皮肤受累并不需要加强恶性肿瘤监测。这些发现将为未来ASyS的分类标准和患者管理提供依据。
