Autoantibody profiles delineate distinct subsets of scleromyositis

Author:

Leclair Valérie12ORCID,D’Aoust Julie1,Gyger Geneviève12,Landon-Cardinal Océane34,Meyer Alain5,O'Ferrall Erin67,Karamchandani Jason7,Massie Rami6,Ellezam Benjamin8,Satoh Minoru9,Troyanov Yves10,Fritzler Marvin J11,Hudson Marie1212ORCID,

Affiliation:

1. Department of Medicine, McGill University

2. Division of Rheumatology, Jewish General Hospital

3. Division of Rheumatology, Centre Hospitalier de l’Université de Montréal (CHUM); CHUM Research Center

4. Department of Medicine, Université de Montréal, Montréal, QC, Canada

5. Centre de Reference des Maladies Autoimmunes Rares Service de Rhumatologie, Exploration Fonctionnelle Musculaires Service de Physiologie Hôpitaux Universitaires de Strasbourg, Université de Strasbourg, Strasbourg, France

6. Department of Neurology and Neurosurgery

7. Department of Pathology, McGill University, Montreal Neurological Institute

8. Centre Hospitalier Universitaire Sainte-Justine, Montreal, QC, Canada

9. Department of Clinical Nursing, School of Health Sciences, University of Occupational and Environmental Health, Kitakyushu, Japan

10. Division of Rheumatology, Department of Medicine, Hôpital du Sacre-Coeur de Montreal, Montreal, QC

11. Cumming School of Medicine, University of Calgary, Calgary, AB

12. Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, QC, Canada

Abstract

Abstract Objective Scleromyositis remains incompletely characterized owing in part to its heterogeneity. The purpose of this study was to explore the role of autoantibody profiles to define subsets of scleromyositis. Methods Subjects with scleromyositis from a prospective cohort were divided into three groups based on autoantibody profiles: subjects with SSc-specific autoantibodies (anti-centromere, -topoisomerase 1, -RNA polymerase III, -Th/To, -fibrillarin), subjects with SSc-overlap autoantibodies (anti-PM/Scl, -U1RNP, -Ku) and subjects without SSc-related autoantibodies. Clinical features, laboratory tests and histopathological findings were retrieved and compared between groups. Results Of 42 scleromyositis subjects (79% female, mean age at diagnosis 55 years, mean disease duration 3.5 years), 8 (19%) subjects had SSc-specific autoantibodies, 14 (33%) SSc-overlap autoantibodies and 20 (48%) had no SSc-related autoantibodies. One-third had no skin involvement, a finding more frequent in the SSc-overlap subjects and those without SSc-related autoantibodies. Proximal and distal weakness was common and head drop/bent spine was found in 50% of the SSc-specific and 35% of the subjects without SSc-related autoantibodies. Of note, the group without SSc-related autoantibodies had the only cases of severe cardiac systolic dysfunction (n = 1) and scleroderma renal crisis (n = 1), as well as three out of the four cancers and three out of the four deaths. Conclusion In this carefully phenotyped series of scleromyositis subjects, absence of SSc-related autoantibodies was common and associated with distinct features and poor prognosis. Future studies are needed to validate these results and possibly identify novel autoantibodies or other biomarkers associated with scleromyositis.

Publisher

Oxford University Press (OUP)

Subject

Pharmacology (medical),Rheumatology

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