Elhani Ines, Khoy Kathy, Mariotte Delphine, Comby Elisabeth, Marcelli Christian, Le Mauff Brigitte, Audemard-Verger Alexandra, Boutemy Jonathan, Maigné Gwénola, Martin Silva Nicolas, Aouba Achille, de Boysson Hubert
Department of Internal Medicine, Caen University Hospital, Caen, France.
Laboratory of Immunology, Department of Biology, Caen University Hospital, Caen, France.
Rheumatol Int. 2023 Mar;43(3):509-521. doi: 10.1007/s00296-022-05161-w. Epub 2022 Jul 27.
Anti-U1-RNP antibodies are necessary for the diagnosis of mixed connective tissue disease (MCTD), but they are also prevalent in other connective tissue diseases, especially systemic lupus erythematosus (SLE), from which distinction remains challenging. We aimed to describe the presentation and outcome of patients with anti-U1-RNP antibodies and to identify factors to distinguish MCTD from SLE. We retrospectively applied the criteria sets for MCTD, SLE, systemic sclerosis (SSc) and rheumatoid arthritis (RA) to all patients displaying anti-U1-RNP antibodies in the hospital of Caen from 2000 to 2020. Thirty-six patients were included in the analysis. Eighteen patients (50%) satisfied at least one of the MCTD classifications, 11 of whom (61%) also met 2019 ACR/EULAR criteria for SLE. Twelve other patients only met SLE without MCTD criteria, and a total of 23 patients (64%) met SLE criteria. The most frequent manifestations included Raynaud's phenomenon (RP, 91%) and arthralgia (67%). We compared the characteristics of patients meeting only the MCTD (n = 7), SLE (n = 12), or both (n = 11) criteria. Patients meeting the MCTD criteria were more likely to display SSc features, including sclerodactyly (p < 0.01), swollen hands (p < 0.01), RP (p = 0.04) and esophageal reflux (p < 0.01). The presence of scleroderma features (swollen hands, sclerodactyly, gastro-oesophageal reflux), was significantly associated with the diagnosis of MCTD. Conversely, the absence of those manifestations suggested the diagnosis of another definite connective tissue disease, especially SLE.
抗U1 - RNP抗体是混合性结缔组织病（MCTD）诊断的必要条件，但它们在其他结缔组织病中也很常见，尤其是系统性红斑狼疮（SLE），鉴别两者仍然具有挑战性。我们旨在描述抗U1 - RNP抗体阳性患者的临床表现和转归，并确定区分MCTD和SLE的因素。我们回顾性地将MCTD、SLE、系统性硬化症（SSc）和类风湿关节炎（RA）的标准应用于2000年至2020年在卡昂医院所有抗U1 - RNP抗体阳性的患者。36例患者纳入分析。18例患者（50%）至少符合一项MCTD分类标准，其中11例（61%）也符合2019年ACR/EULAR SLE标准。另外12例患者仅符合SLE而非MCTD标准，共有23例患者（64%）符合SLE标准。最常见的表现包括雷诺现象（RP，91%）和关节痛（67%）。我们比较了仅符合MCTD标准（n = 7）、SLE标准（n = 12）或两者标准（n = 11）的患者的特征。符合MCTD标准的患者更可能表现出SSc特征，包括指端硬化（p < 0.01）、手部肿胀（p < 0.01）、RP（p = 0.04）和食管反流（p < 0.01）。硬皮病特征（手部肿胀、指端硬化、胃食管反流）的存在与MCTD诊断显著相关。相反，这些表现的缺失提示诊断为另一种明确的结缔组织病，尤其是SLE。
