The Prevalence of Individual Histopathologic Features Varies according to Autoantibody Status in Muscle Biopsies from Patients with Dermatomyositis

Abstract

Objective: Individual dermatomyositis (DM)-associated autoantibodies are associated with distinct clinical phenotypes. This study was undertaken to explore the association of these autoantibodies with specific muscle biopsy features.

Methods: DM subjects with a muscle biopsy reviewed at Johns Hopkins had sera screened for autoantibodies recognizing Mi-2, transcriptional intermediary factor 1-γ (TIF1-γ), NXP2, MDA5, Ro52, PM-Scl, and Jo1. We also included anti-Jo1–positive patients with polymyositis (PM) who had a biopsy read at Johns Hopkins. Analyzed histological features included perifascicular atrophy, perivascular inflammation, mitochondrial dysfunction, primary inflammation, and myofiber necrosis. Duration of disease, biopsy location, and treatment at biopsy were also analyzed.

Results: We studied 91 DM and 7 anti-Jo1–positive patients with PM. In univariate analyses, TIF1-γ+ patients had more mitochondrial dysfunction (47% vs 18%; p = 0.05), NXP2+ patients had less primary inflammation (0% vs 28%; p = 0.01), Mi-2+ patients had more primary inflammation (50% vs 19%; p = 0.03), and PM-Scl+ patients had more primary inflammation (67% vs 18%; p = 0.004) than those who were negative for each autoantibody. Although reliability was limited because of small sample numbers, multivariate analysis confirmed that TIF1-γ+ patients had more mitochondrial dysfunction [prevalence ratio (PR) 2.6, 95% CI 1.0–6.5, p = 0.05] and PM-Scl+ patients had more primary inflammation (PR 5.2, 95% CI 2.0–13.4; p = 0.001) independent of disease duration at biopsy, biopsy site, and treatment at biopsy. No differences in muscle biopsy features were noted between anti-Jo1–positive patients diagnosed with DM and PM.

Conclusion: The prevalence of different histological features varies according to autoantibody status in DM. Muscle biopsy features are similar in anti-Jo1 patients with and without a rash.

Figure 1.

Typical muscle biopsy from an anti-Tif1γ positive DM patient. (A) This low power view of a frozen section stained with COX (brown) and SDH (blue) reveals both normal fibers (brown) and numerous COX-deficient fibers (purple/blue) indicating mitochondrial dysfunction; several fascicles include examples of perifascicular atrophy. (B) This high power view of a paraffin section from the same patient stained with H&E shows a striking example of perivascular inflammation.