• Kevin Chevalier, Benjamin Thoreau, Marc Michel, Bertrand Godeau, Christian Agard, Thomas Papo, Karim Sacre, Raphaèle Seror, Xavier Mariette, Patrice Cacoub, Ygal Benhamou, Hervé Levesque, Cécile Goujard, Olivier Lambotte, Bernard Bonnotte, Maxime Samson, Félix Ackermann, Jean Schmidt, Pierre Duhaut, Jean-Emmanuel Kahn, Thomas Hanslik, Nathalie Costedoat-Chalumeau, Benjamin Terrier, Alexis Regent, Bertrand Dunogue, Pascal Cohen, GuernVéronique LeVLDepartment of Internal Medicine, National Reference Center for Rare Systemic Autoimmune Diseases, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, France., Eric Hachulla, Benjamin Chaigne, and Luc Mouthon.
• Department of Internal Medicine, National Reference Center for Rare Systemic Autoimmune Diseases, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, France.
• J. Intern. Med. 2024 Apr 1; 295 (4): 532543532-543.

ObjectivesThe objective of this study is to better characterize the features and outcomes of a large population of patients with mixed connective tissue disease (MCTD).MethodsWe performed an observational retrospective multicenter cohort study in France. Patients who fulfilled at least one diagnostic criterion set for MCTD and none of the criteria for other differentiated CTD (dCTD) were included.ResultsThree hundred and thirty patients (88% females, median [interquartile range] age of 35 years [26-45]) were included. The diagnostic criteria of Sharp or Kasukawa were met by 97.3% and 93.3% of patients, respectively. None met other classification criteria without fulfilling Sharp or Kasukawa criteria. After a median follow-up of 8 (3-14) years, 149 (45.2%) patients achieved remission, 92 (27.9%) had interstitial lung disease, 25 (7.6%) had pulmonary hypertension, and 18 (5.6%) died. Eighty-five (25.8%) patients progressed to a dCTD, mainly systemic sclerosis (15.8%) or systemic lupus erythematosus (10.6%). Median duration between diagnosis and progression to a dCTD was 5 (2-11) years. The presence at MCTD diagnosis of an abnormal pattern on nailfold capillaroscopy (odds ratio [OR] = 2.44, 95% confidence interval [95%CI] [1.11-5.58]) and parotid swelling (OR = 3.86, 95%CI [1.31-11.4]) were statistically associated with progression to a dCTD. Patients who did not progress to a dCTD were more likely to achieve remission at the last follow-up (51.8% vs. 25.9%).ConclusionsThis study shows that MCTD is a distinct entity that can be classified using either Kasukawa or Sharp criteria, and that only 25.8% of patients progress to a dCTD during follow-up.© 2023 The Association for the Publication of the Journal of Internal Medicine.

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