Department of Neuropathology, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, University College London Hospitals, London, UK; Department of Histopathology, Great Ormond Street Hospital for Children, London, UK.
Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Rheumatology, Charitéplatz 1, 10117 Berlin, Germany.
Best Pract Res Clin Rheumatol. 2022 Jun;36(2):101763. doi: 10.1016/j.berh.2022.101763. Epub 2022 Jun 28.
The appropriate analysis of skeletal muscle tissues is a key element in many diagnostic procedures and can deliver valuable information about the organ that is affected. Although arguably the frequency of muscle biopsy may be declining in certain domains where genetic analysis is now the first line of diagnostic evaluation, it still has an important role in assessment of patients with neuromuscular disorders such as congenital myopathies, muscular dystrophies, metabolic and inflammatory diseases. Here, we have comprehensively discussed the aspects of a modern and fruitful approach to muscle biopsy histopathological studies in rheumatological disorders. We have focussed on the neuromuscular involvement in myositis and its differential diagnoses in both adult and paediatric settings. We have also covered the clinical indications for the biopsy, technical aspects and practical points relevant for the rheumatologists. Finally, we have critically discussed the current and future opportunities that a muscle biopsy may offer and its limitations.
骨骼肌组织的适当分析是许多诊断程序的关键要素，它可以提供有关受影响器官的有价值的信息。尽管可以说，在某些领域，肌肉活检的频率可能在下降，因为现在基因分析是诊断评估的首选方法，但它在评估神经肌肉疾病患者方面仍然具有重要作用，如先天性肌病、肌营养不良症、代谢和炎症性疾病。在这里，我们全面讨论了一种现代且富有成效的方法，用于研究风湿性疾病中的肌肉活检组织病理学。我们专注于肌炎中的神经肌肉受累及其在成人和儿科环境中的鉴别诊断。我们还涵盖了活检的临床适应证、技术方面和风湿病学家相关的实际问题。最后，我们批判性地讨论了肌肉活检可能提供的当前和未来机会及其局限性。
