Anti-HMGCR myopathy: clinical and histopathological features, and prognosis

This review aims to describe clinical and pathological features, prognosis and treatment in patients with anti-HMGCR antibody positive immune-mediated necrotizing myopathy (HMGCR-IMNM) based on recent findings.

Using advances in diagnostic modalities that can confirm the presence of anti-HMGCR antibody, the clinical and pathological manifestations of HMGCR-IMNM were found to be broader than previously reported. Although only a small percentage of HMGCR-IMNM patients present with atypical manifestations, some of these patients show slow disease progression and clinical symptoms, which are similar to those of limb-girdle muscular dystrophies. Other atypical HMGCR-IMNM patients have skin conditions similar to dermatomyositis-like skin rush or dermatological presentations of Jessner-Kanoff disease or cutaneous lymphoma, whose pathological changes including CD8-positive and bcl-2-positive lymphocytic accumulations, similar to Jessner-Kanoff lymphocytic infiltration of skin or low-grade cutaneous lymphoma, which are observed in muscle and skin.

Anti-HMGCR autoantibodies define unique populations of IMNM patients. Recent studies have revealed that clinicopathological manifestations of HMGCR-IMNM, especially extramuscular symptoms and pathological manifestations, are more common than previously recognized.