抗 HMGCR 肌病可能类似于肢带型肌营养不良症。
Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy.
机构信息
National Institutes of Health (P.M., A.R.F., S.D., C.G.B.), NINDS, NNDCS, Bethesda, MD; Department of Internal Medicine and Clinical Immunology (O.L.-C., Y.A., O.B.), Sorbonne Universités, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France; National Institutes of Health (K.P., A.L.M.), NIAMS; National Institutes of Health (C.W., C.T.), NHGRI, UDP, Bethesda, MD; Department of Neurology (R.T.S.), University of Miami, Miami, FL; Department of Neurology (A.H.), Virginia Commonwealth University, Richmond, VA; Division of Pediatric Neurology (P.F.), Department of Pediatrics, University of Alabama, Birmingham; Department of Neurological Sciences (M.M.), Rush University Medical Center, Chicago, IL; Department of Neurology (D.D., A.L.M.), Department of Medicine (A.L.M.), Johns Hopkins University, Baltimore, MD; AP-HP (A.B., B.E., T.S.), G-H Pitié-Salpêtrière, Institut de Myologie, Paris; and Neurology Department (P.L.), Raymond Poincaré Hospital, Garches, APHP and INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
出版信息
Neurol Neuroimmunol Neuroinflamm. 2018 Dec 12;6(1):e523. doi: 10.1212/NXI.0000000000000523. eCollection 2019 Jan.
OBJECTIVE
To determine the prevalence and clinical features of anti-HMGCR myopathy among patients with presumed limb-girdle muscular dystrophy (LGMD) in whom genetic testing has failed to elucidate causative mutations.
METHODS
Patients with presumed LGMD and unrevealing genetic testing were selected based on a few clinico-pathologic features and tested for anti-HMGCR autoantibodies (n = 11). These clinico-pathologic features are peak creatine kinase (CK) greater than 1,000 IU/L and at least 3 of the following features: (1) limb-girdle pattern of weakness, (2) selective involvement of posterior thigh on clinical examination or muscle imaging, (3) dystrophic changes on muscle biopsy, and (4) no family history of muscular dystrophy.
RESULTS
Six patients tested positive for anti-HMGCR autoantibodies. In 4, there was a presymptomatic phase, lasting as long as 10 years, characterized by elevated CK levels without weakness. Muscle biopsies revealed variable degrees of a dystrophic pathology without prominent inflammation. In an independent cohort of patients with anti-HMGCR myopathy, 17 of 51 (∼33%) patients were initially presumed to have a form of LGMD based on clinico-pathologic features but were ultimately found to have anti-HMGCR myopathy. Most of these patients responded favorably to immunomodulatory therapies, evidenced by reduction of CK levels and improved strength.
CONCLUSIONS
Anti-HMGCR myopathy can resemble LGMD. Diagnosis of patients with a LGMD-like presentation of anti-HMGCR myopathy is critical because these patients may respond favorably to immunotherapy, especially those with shorter disease duration.
目的
确定在遗传检测未能阐明致病突变的疑似肢带型肌营养不良症（LGMD）患者中，抗 HMGCR 肌病的患病率和临床特征。
方法
根据一些临床病理特征选择疑似 LGMD 且遗传检测结果不明确的患者，并检测抗 HMGCR 自身抗体（n=11）。这些临床病理特征是肌酸激酶（CK）峰值大于 1000IU/L 且至少存在以下 3 种特征：（1）肢带型肌无力模式，（2）临床检查或肌肉影像学上选择性累及大腿后侧，（3）肌肉活检显示出营养不良变化，（4）无肌营养不良家族史。
结果
6 名患者抗 HMGCR 自身抗体检测阳性。其中 4 名患者存在无症状期，持续长达 10 年，表现为 CK 水平升高而无肌无力。肌肉活检显示出不同程度的营养不良病理，无明显炎症。在一组独立的抗 HMGCR 肌病患者中，51 名患者中有 17 名（约 33%）最初根据临床病理特征被认为是某种形式的 LGMD，但最终被发现患有抗 HMGCR 肌病。这些患者中的大多数对免疫调节治疗反应良好，表现为 CK 水平降低和肌力改善。
结论
抗 HMGCR 肌病可能类似于 LGMD。诊断具有抗 HMGCR 肌病样表现的 LGMD 患者至关重要，因为这些患者可能对免疫治疗有良好的反应，尤其是那些疾病持续时间较短的患者。
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