Peric Stojan, Zlatar Jelena, Nikolic Luka, Ivanovic Vukan, Pesovic Jovan, Petrovic Djordjevic Ivana, Sreckovic Svetlana, Savic-Pavicevic Dusanka, Meola Giovanni, Rakocevic-Stojanovic Vidosava
Neurology Clinic, University Clinical Center of Serbia, Belgrade, Serbia.
Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Front Neurol. 2022 Jul 18;13:932883. doi: 10.3389/fneur.2022.932883. eCollection 2022.
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).
The aim of this study is to analyze the frequency and type of AIDs in patients with DM2 from the Serbian DM registry.
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.
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%, <0.01).
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.
2型强直性肌营养不良症（DM2）是一种罕见的常染色体显性多系统疾病，临床表现高度可变。一些病例报告和一项队列研究表明，DM2与自身免疫性疾病（AIDs）之间存在显著关联。
本研究旨在分析塞尔维亚DM登记处中DM2患者自身免疫性疾病的发生率和类型。
共纳入来自108个家庭的131例DM2患者，[女性占62.6%，DM2发病时的平均年龄为40.4岁（标准差13岁），登记时的年龄为52岁（12.8岁），分析时的年龄为58.4岁（12.8岁）]。数据来自塞尔维亚DM登记处Akhenaten，并通过医院电子数据系统获取。
在登记时，131例DM2患者中有35例（26.7%）患有自身免疫性疾病，包括桥本甲状腺炎（18.1%）、类风湿性关节炎、1型糖尿病、系统性红斑狼疮、干燥综合征、局限性硬皮病、银屑病、乳糜泻、格雷夫斯病、视神经脊髓炎、重症肌无力和格林-巴利综合征。在数据分析时，又有1例患者出现了新的自身免疫性疾病，因此，125例DM2幸存者中最终有36例（28.8%）患有自身免疫性疾病。在63例接受检测的患者中，有14例（10.7%）检测出抗核抗体（ANA），其中12例无明确对应的自身免疫性疾病（均为低滴度，1:40至1:160）。在所有50例接受检测的病例中，抗中性粒细胞胞浆抗体（ANCA）均为阴性。自身免疫性疾病患者中女性的比例显著更高（82.9%对55.2%，<0.01）。
高达30%的DM2患者患有自身免疫性疾病。因此，对DM2患者进行自身免疫性疾病筛查似乎是合理的。自身免疫性疾病和/或抗核抗体的存在可能导致DM2的诊断不足。
