Muscle Disease Unit, Laboratory of Muscle Stem Cells and Gene Expression, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Curr Opin Rheumatol. 2017 Nov;29(6):618-622. doi: 10.1097/BOR.0000000000000441.
To discuss the spectrum of nonautoimmune myopathies that may be misdiagnosed as autoimmune myopathy.
Inherited myopathies, such as dysferlinopathy, calpainopathy, and facioscapulohumeral dystrophy may be misdiagnosed as autoimmune myopathy, especially when they have inflammatory muscle biopsies. Inclusion body myositis is frequently misdiagnosed as polymyositis when rimmed vacuoles are absent on muscle biopsy, and a careful neuromuscular evaluation is not performed. Hypothyroid myopathy can be misdiagnosed as immune-mediated necrotizing myopathy if thyroid function tests, including a T4 level, are not obtained. Self-limited statin myopathy can be distinguished from statin-associated autoimmune myopathy because patients with the former do not have autoantibodies recognizing 3-hydroxy-3-methylglutaryl-coenzyme A reductase.
Autoimmune myopathies can usually be distinguished from nonautoimmune myopathies based on a combination of the patient history, neuromuscular exam, laboratory findings, and/or muscle biopsy features.
讨论可能被误诊为自身免疫性肌病的非自身免疫性肌病谱。
遗传性肌病，如肌营养不良症、钙蛋白酶病和面肩肱型肌营养不良症，可能被误诊为自身免疫性肌病，尤其是当它们具有炎症性肌肉活检时。包涵体肌炎在肌肉活检时如果没有边缘空泡，并且没有进行仔细的神经肌肉评估，则常被误诊为多发性肌炎。如果未进行甲状腺功能检查，包括 T4 水平检查，则甲状腺功能减退性肌病可误诊为免疫介导的坏死性肌病。他汀类药物相关性自身免疫性肌病可与自限性他汀类药物相关性肌病相鉴别，因为前者患者没有识别 3-羟基-3-甲基戊二酰辅酶 A 还原酶的自身抗体。
基于患者病史、神经肌肉检查、实验室发现和/或肌肉活检特征的综合情况，通常可以将自身免疫性肌病与非自身免疫性肌病区分开来。
