"To be or not to be," ten years after: Evidence for mixed connective tissue disease as a distinct entity

Susanna Cappelli*, Silvia Bellando Randone, Dušanka Martinović, Maria Magdalena Tamas, Katarina Pasalić, Yannick Allanore, Marta Mosca, Rosaria Talarico, Daniela Opris, Csaba G. Kiss, Anne Kathrin Tausche, Silvia Cardarelli, Valeria Riccieri, Olga Koneva, Giovanna Cuomo, Mike Oliver Becker, Alberto Sulli, Serena Guiducci, Mislav Radić, Stefano BombardieriMartin Aringer, Franco Cozzi, Guido Valesini, Lidia Ananyeva, Gabriele Valentini, Gabriela Riemekasten, Maurizio Cutolo, Ruxandra Ionescu, László Czirják, Nemanja Damjanov, Simona Rednic, Marco Matucci Cerinic

*Corresponding author for this work
83 Citations (Scopus)


Objectives: To determine if mixed connective tissue disease (MCTD) can be considered an independent clinical entity, to compare 3 different classification criteria for MCTD (Kasukawa, Alarcón-Segovia, and Sharp), and to define predictors (clinical features and autoantibodies) of potential evolution toward other connective tissue diseases (CTDs). Methods: One hundred sixty-one MCTD patients were evaluated retrospectively at the diagnosis and in 2008. They were classified, at the diagnosis, according to the 3 classification criteria of MCTD (Sharp, Alarcón-Segovia, and Kasukawa) and reclassified in 2008 according to their evolution. Statistical analyses were performed to find out predictors (clinical features and autoantibodies) of evolution into other CTDs. Results: After a mean of 7.9 years of disease, 57.9% of patients still satisfied MCTD classification criteria of Kasukawa; 17.3% evolved into systemic sclerosis, 9.1% into systemic lupus erythematosus, 2.5% into rheumatoid arthritis, 11.5% was reclassified as affected by undifferentiated connective tissue disease, and 1.7% as suffering from overlap syndrome. Kasukawa's criteria were more sensitive (75%) in comparison to those of Alarcón-Segovia (73%) and Sharp (42%). The presence of anti-DNA antibodies (P = 0.012) was associated with evolution into systemic lupus erythematosus; hypomotility or dilation of esophagus (P < 0.001); and sclerodactyly (P = 0.034) with evolution into systemic sclerosis. Conclusions: MCTD is a distinct clinical entity but it is evident that a subgroup of patients may evolve into another CTD during disease progression. Initial clinical features and autoantibodies can be useful to predict disease evolution.

Original languageEnglish
JournalSeminars in Arthritis and Rheumatism
Issue number4
Pages (from-to)589-598
Number of pages10
Publication statusPublished - 02.2012

Research Areas and Centers

  • Academic Focus: Center for Infection and Inflammation Research (ZIEL)


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