Department of Neurology, Division of Neuromuscular Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Department of Medicine, Division of Neurology, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Eur J Neurol. 2024 Feb;31(2):e16117. doi: 10.1111/ene.16117. Epub 2023 Nov 3.
Elevation of serum creatine kinase (CK) or hyperCKemia is considered a biological marker of myopathies. However, selective elevation of serum aldolase with normal CK has been reported in a few myopathies, including dermatomyositis, immune-mediated myopathy with perimysial pathology and fasciitis with associated myopathy. The aim was to investigate the disease spectrum of myopathies with isolated aldolase elevation.
Medical records were reviewed to identify patients >18 years old seen between December 1994 and June 2020 who had pathologically proven myopathies with elevated aldolase and normal CK level. Patients with alternative causes of aldolase elevation were excluded.
Thirty-four patients with various types of myopathies were identified. Myopathies were treatable in 27 patients. The three most common etiologies were dermatomyositis (n = 8), overlap myositis (n = 4) and nonspecific myopathy (n = 4). Perimysial pathology comprising inflammation, fragmentation, vasculitis, calcified perimysial vessels or extracellular amyloid deposition was found in 17/34 patients (50%). Eight dermatomyositis patients with selective elevated aldolase were compared to 24 sex- and age-matched patients with dermatomyositis and hyperCKemia. Dermatomyositis patients with normal CK significantly (p < 0.05) had less frequent cutaneous involvement (50.0% vs. 100.0%) and fibrillation potentials (50.0% vs. 90.5%) but higher median erythrocyte sedimentation rate (33.5 vs. 13.5 mm/h) and more common perifascicular mitochondrial pathology (37.5% vs. 4.2%).
Isolated aldolase elevation can be found in a greater variety of myopathies than initially thought and most were treatable. Dermatomyositis is the most common myopathy with selective elevation of aldolase in our cohort, which features some unique characteristics compared to dermatomyositis with hyperCKemia.
血清肌酸激酶（CK）升高或高肌酸激酶血症被认为是肌病的生物标志物。然而，在一些肌病中，包括皮肌炎、伴肌周病理的免疫介导性肌病和伴肌病的筋膜炎，已经报道了血清醛缩酶选择性升高而 CK 正常。本研究旨在探讨醛缩酶升高的孤立性肌病的疾病谱。
回顾性分析 1994 年 12 月至 2020 年 6 月间经病理证实的血清醛缩酶升高且 CK 正常的 18 岁以上患者的病历。排除了其他原因导致醛缩酶升高的患者。
共发现 34 例不同类型的肌病患者。27 例患者的肌病可治疗。最常见的三种病因是皮肌炎（n=8）、重叠性肌炎（n=4）和非特异性肌病（n=4）。34 例患者中有 17 例（50%）发现肌周病理包括炎症、断裂、血管炎、钙化的肌周血管或细胞外淀粉样物质沉积。将 8 例皮肌炎伴选择性醛缩酶升高的患者与 24 例性别和年龄匹配的皮肌炎伴高肌酸激酶血症患者进行比较。与高肌酸激酶血症的皮肌炎患者相比，CK 正常的皮肌炎患者的皮肤受累频率显著降低（50.0% vs. 100.0%），肌纤维颤动电位显著降低（50.0% vs. 90.5%），红细胞沉降率中位数显著升高（33.5 vs. 13.5mm/h），束周线粒体病理更常见（37.5% vs. 4.2%）。
与最初的想法相比，孤立性醛缩酶升高可在更多种类的肌病中发现，而且大多数是可治疗的。在本队列中，皮肌炎是最常见的伴选择性醛缩酶升高的肌病，与高肌酸激酶血症的皮肌炎相比，其具有一些独特的特征。
