The diagnostic challenge of patients with anti-U1-RNP antibodies

Springer Science and Business Media LLC - Tập 43 - Trang 509-521 - 2022
Ines Elhani1, Kathy Khoy2, Delphine Mariotte2, Elisabeth Comby2, Christian Marcelli3, Brigitte Le Mauff2,4,5, Alexandra Audemard-Verger6,7, Jonathan Boutemy1, Gwénola Maigné1, Nicolas Martin Silva1, Achille Aouba1,5, Hubert de Boysson1,5
1Department of Internal Medicine, Caen University Hospital, Caen, France
2Laboratory of Immunology, Department of Biology, Caen University Hospital, Caen, France
3Department of Rheumatology, Caen University Hospital, Caen, France
4UMR-S1237, Physiopathology and Imaging of Neurological Disorders, INSERM, Caen, France
5Normandie Université, Unicaen, Caen, France
6Department of Internal Medicine and Clinical Immunology, CHRU Tours, Tours, France
7University of Tours, Tours, France

Tóm tắt

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.

Tài liệu tham khảo

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