Sporadic Inclusion Body Myositis and Other Rimmed Vacuolar Myopathies.
Sporadic Inclusion Body Myositis and Other Rimmed Vacuolar Myopathies.
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DOI：
10.1212/con.0000000000000790
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发表时间：
2019-12-01
期刊：
影响因子：
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通讯作者：
Weihl, Conrad C
中科院分区：
文献类型：
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作者：
Weihl, Conrad C
综述目的：本文回顾了散发性包涵体肌炎(IBM)的临床、实验室和组织病理学特征，并探讨了其与具有IBM样病理的遗传性肌病的病因学重叠。研究结果：散发性IBM是50岁以上患者最常见的获得性肌肉疾病，随着人口年龄的增加，更具包容性的诊断标准的出现，以及诊断自身抗体的出现，散发性IBM正在变得更加普遍。目前尚无有效的治疗方法，致病机制尚不清楚。可以从其他具有病理相似性的肌病或遗传性包涵体肌病中获得一些致病的洞察力。尽管在临床上与散发性IBM不同，遗传性包涵体肌病的临床前模型提供了将一些治疗方法推向临床开发的机会。总结：散发性IBM患者经历显著的发病率，该疾病与大量未得到满足的医疗需求有关。随着治疗方法的发展，改善诊断将是至关重要的。早期诊断依赖于意识、临床病史、体检、实验室特征和适当的肌肉活检处理。未来的研究需要了解自然历史，识别遗传风险因素，并验证生物标记物以跟踪疾病进展。在我们走向治疗干预的过程中，这些步骤是必不可少的。
PURPOSE OF REVIEW: This article reviews the clinical, laboratory, and histopathologic features of sporadic inclusion body myositis (IBM) and explores its pathogenic overlap with inherited myopathies that have IBM-like pathology.RECENT FINDINGS: Sporadic IBM is the most common acquired muscle disease in patients older than 50 years of age and is becoming more prevalent because of the increasing age of the population, the emerging development of more inclusive diagnostic criteria, and the advent of a diagnostic autoantibody. No effective therapy is known, and the pathogenic mechanism remains unclear. Some pathogenic insight can be gleaned from other myopathies with pathologic similarities or hereditary inclusion body myopathies. Although clinically distinct from sporadic IBM, preclinical models of hereditary inclusion body myopathy have offered an opportunity to move some therapies toward clinical development.SUMMARY: Patients with sporadic IBM experience significant morbidity, and the disease is associated with a large unmet medical need. As therapies are developed, improved diagnosis will be essential. Early diagnosis relies on awareness, clinical history, physical examination, laboratory features, and appropriate muscle biopsy processing. Future research is needed to understand the natural history, identify genetic risk factors, and validate biomarkers to track disease progression. These steps are essential as we move toward therapeutic interventions.