Myopathies featuring non-caseating granulomas: Sarcoidosis, inclusion body myositis and an unfolding overlap

Abstract

Granulomatous myopathies are etiologically heterogeneous myopathies, pathologically characterized by the presence of intramuscular granulomas. Treatment outcomes are variable. We aimed to identify prognostic factors of treatment outcomes in myopathies featuring non-caseating granulomas. Sixteen patients were identified (9 sarcoid myopathy, 6 inclusion body myositis, and 1 granulomatous myopathy of indeterminate cause) over a 21-year period. The median age at diagnosis was 67 years in sarcoid myopathy group, and 64 years in inclusion body myositis group. Three inclusion body myositis patients were initially diagnosed with sarcoid myopathy based on the presence of systemic features of sarcoidosis and findings on muscle biopsies, but subsequent biopsies performed because of treatment refractoriness, showed all canonical pathologic features of inclusion body myositis. We identified sarcoplasmic congophilic inclusions in 6 sarcoid myopathy patients without associated rimmed vacuoles or typical weakness pattern of inclusion body myositis. Four inclusion body myositis and 4 of 5 sarcoid myopathy patients with congophilic inclusions were refractory to immunotherapy. Our study portrays the overlapping clinical and pathological features of sarcoid myopathy and inclusion body myositis. The presence of sarcoplasmic congophilic inclusions in sarcoid myopathy may predict an unfavorable outcome of immunosuppressive therapy, but a larger prospective study is required to further validate this observation.