Autoimmune Diseases in Patients With Myotonic Dystrophy Type 2

Stojan Peric; Jelena Zlatar; Luka Nikolic; Vukan Ivanovic; Jovan Pesovic; Ivana Petrovic Djordjevic; Svetlana Sreckovic; Dusanka Savic-Pavicevic; Giovanni Meola; Vidosava Rakocevic-Stojanovic

doi:10.3389/fneur.2022.932883

Autoimmune Diseases in Patients With Myotonic Dystrophy Type 2

Front Neurol. 2022 Jul 18:13:932883. doi: 10.3389/fneur.2022.932883. eCollection 2022.

Authors

Affiliations

¹ Neurology Clinic, University Clinical Center of Serbia, Belgrade, Serbia.
² Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
³ Center for Human Molecular Genetics, Faculty of Biology, University of Belgrade, Belgrade, Serbia.
⁴ Cardiology Clinic, University Clinical Center of Serbia, Belgrade, Serbia.
⁵ Anaesthesiology Clinic, University Clinical Center of Serbia, Belgrade, Serbia.
⁶ Department of Neurorehabilitation Sciences, Casa Di Cura del Policlinico, Department of Biomedical Sciences for Health, University of Milan, Milan, Italy.

Abstract

Introduction: Myotonic dystrophy type 2 (DM2) is a rare autosomal dominant multisystemic disease with highly variable clinical presentation. Several case reports and one cohort study suggested a significant association between DM2 and autoimmune diseases (AIDs).

Aim: The aim of this study is to analyze the frequency and type of AIDs in patients with DM2 from the Serbian DM registry.

Patients and methods: A total of 131 patients with DM2 from 108 families were included, [62.6% women, mean age at DM2 onset 40.4 (with standard deviation 13) years, age at entering the registry 52 (12.8) years, and age at analysis 58.4 (12.8) years]. Data were obtained from Akhenaten, the Serbian registry for DM, and through the hospital electronic data system.

Results: Upon entering the registry, 35 (26.7%) of the 131 patients with DM2 had AIDs including Hashimoto thyroiditis (18.1%), rheumatoid arthritis, diabetes mellitus type 1, systemic lupus, Sjogren's disease, localized scleroderma, psoriasis, celiac disease, Graves's disease, neuromyelitis optica, myasthenia gravis, and Guillain-Barre syndrome. At the time of data analysis, one additional patient developed new AIDs, so eventually, 36 (28.8%) of 125 DM2 survivors had AIDs. Antinuclear antibodies (ANAs) were found in 14 (10.7%) of 63 tested patients, including 12 without defined corresponding AID (all in low titers, 1:40 to 1:160). Antineutrophil cytoplasmic antibodies (ANCAs) were negative in all 50 tested cases. The percentage of women was significantly higher among patients with AIDs (82.9% vs. 55.2%, p <0.01).

Conclusion: AIDs were present in as high as 30% of the patients with DM2. Thus, screening for AIDs in DM2 seems reasonable. Presence of AIDs and/or ANAs may lead to under-diagnosis of DM2.

Keywords: Hashimoto autoimmune thyroiditis; antineutrophil cytoplasmic antibodies; antinuclear antibodies; autoimmune diseases; myotonic dystrophy type 2 (DM2).