Anti-HMGCR myopathy mimicking facioscapulohumeral muscular dystrophy

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

Publication Details

Journal
Zurich Open Repository and Archive (University of Zurich)
Published
2024-09-04
DOI
https://doi.org/10.5167/uzh-269535
Primary Topic
Wood and Agarwood Research
Type
article
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article

Anti-HMGCR myopathy mimicking facioscapulohumeral muscular dystrophy

Zurich Open Repository and Archive (University of Zurich)
Wood and Agarwood Research
article

Anti-HMGCR myopathy mimicking facioscapulohumeral muscular dystrophy

article en

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

Zurich Open Repository and Archive (University of Zurich)
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Wood and Agarwood Research
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