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模仿面肩肱型肌营养不良的抗3-羟基-3-甲基戊二酰辅酶A还原酶肌病

Anti-HMGCR myopathy mimicking facioscapulohumeral muscular dystrophy.

作者信息

Braun Andreas Albert, Atiya Monika, Göhner Katja, Hortobagyi Tibor, Burkhardt Tobias, Schreiner Bettina

机构信息

Department of Neurology, University Hospital Zurich, Zurich, Switzerland.

Faculty of Medicine, University of Zurich, Zurich, Switzerland.

出版信息

Open Med (Wars). 2024 Sep 4;19(1):20241033. doi: 10.1515/med-2024-1033. eCollection 2024.

DOI:10.1515/med-2024-1033
PMID:39247442
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11377977/
Abstract

INTRODUCTION

Statin use can lead to various muscle-related issues, including benign creatine kinase (CK) elevations, myalgias, toxic myopathies, rhabdomyolysis, and immune-mediated necrotizing myositis (IMNM), which primarily affects older males. IMNM presents with proximal muscle weakness, elevated CK levels, and specific antibodies.

CASE PRESENTATION

We describe a 72-year-old patient with muscle weakness persisting for over 3 years after statin therapy. Initially suspected to have a genetic disorder, further testing revealed elevated anti-3-hydroxy-3-methylglutaryl coenzyme A reductase (HMGCR) antibodies, indicating immune-mediated myopathy. Despite the absence of inflammatory changes on biopsy, the patient responded positively to immune therapy.

CONCLUSION

This case highlights challenges in diagnosing immune-mediated myopathy, especially in older patients with atypical presentations. Testing for HMGCR antibodies can aid in diagnosis, particularly when inflammatory markers are absent. Awareness of red flags, such as delayed symptom onset and response to prednisone, is crucial for accurate diagnosis and management.

摘要

引言

他汀类药物的使用可能导致各种与肌肉相关的问题,包括良性肌酸激酶(CK)升高、肌痛、中毒性肌病、横纹肌溶解症以及免疫介导的坏死性肌炎(IMNM),后者主要影响老年男性。IMNM表现为近端肌无力、CK水平升高以及特定抗体。

病例介绍

我们描述了一名72岁的患者,在接受他汀类药物治疗后肌肉无力持续超过3年。最初怀疑患有遗传性疾病,进一步检测发现抗3-羟基-3-甲基戊二酰辅酶A还原酶(HMGCR)抗体升高,提示免疫介导的肌病。尽管活检未发现炎症改变,但患者对免疫治疗反应良好。

结论

该病例凸显了免疫介导肌病诊断中的挑战,尤其是在表现不典型的老年患者中。检测HMGCR抗体有助于诊断,特别是在缺乏炎症标志物的情况下。意识到一些警示信号,如症状延迟出现和对泼尼松的反应,对于准确诊断和管理至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a199/11377977/5c6e3aeb1fb3/j_med-2024-1033-fig003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a199/11377977/fce9bceb317a/j_med-2024-1033-fig001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a199/11377977/fe62bfda66a9/j_med-2024-1033-fig002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a199/11377977/5c6e3aeb1fb3/j_med-2024-1033-fig003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a199/11377977/fce9bceb317a/j_med-2024-1033-fig001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a199/11377977/fe62bfda66a9/j_med-2024-1033-fig002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a199/11377977/5c6e3aeb1fb3/j_med-2024-1033-fig003.jpg

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本文引用的文献

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Autoimmun Rev. 2023 Dec;22(12):103468. doi: 10.1016/j.autrev.2023.103468. Epub 2023 Oct 24.
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Facioscapulohumeral muscular dystrophy: the road to targeted therapies.面肩肱型肌营养不良症:靶向治疗之路。
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伴有抗 HMGCR 抗体阳性的免疫介导性坏死性肌病的 Becker 型肌营养不良症。
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Treatment and outcomes in anti-HMG-CoA reductase-associated immune-mediated necrotising myopathy. Comparative analysis of a single-centre cohort and published data.抗 HMG-CoA 还原酶相关免疫介导性坏死性肌病的治疗和转归。单中心队列研究和文献数据的对比分析。
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