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Diagnostic challenge: Bethlem myopathy mimicking inflammatory myopathy
Olga Rusinovich-Lovgach1, Luz Morán2, Oscar Toldos-Gonzalez3
1Puerta de Hierro Majadahonda University Hospital, Rheumatology Department, Spain.
None:
We describe a young man with persistent hyperCKemia and MRI findings initially suggestive of inflammatory myopathy, in whom genetic testing confirmed Bethlem myopathy. This case illustrates how collagen VI-related myopathies can mimic idiopathic inflammatory myopathies (IIM), underlining the need for integrated clinical, imaging, biopsy, and genetic data to ensure diagnostic accuracy and avoid unnecessary immunosuppression.
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