Τίτλος:
Polymyositis with mitochondrial pathology or atypical form of sporadic inclusion body myositis: case series and review of the literature
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Polymyositis with mitochondrial pathology (PM-Mito) is a rare form of idiopathic inflammatory myopathy with no definite diagnostic criteria and similarities to both PM and sporadic inclusion body myositis (s-IBM). The aim of this study is to address the dilemma of whether PM-Mito is a subtype of inflammatory myopathy or represents a disease falling into the spectrum of s-IBM. Herein, we report four female patients diagnosed with PM-Mito, highlighting their rather atypical clinical and histopathological characteristics that seem to indicate a diagnosis away from s-IBM. Muscle weakness was rather proximal and symmetrical and lacked the selective pattern observed in s-IBM. Patients had large-scale deletions in mtDNA, reflecting the mitochondrial component in the pathology of the disease. Conclusively, our study adds to the limited data in the literature on whether PM-Mito is a distinct form of myositis or represents a prodromal stage of s-IBM. Although the latter seems to be supported by a substantial body of evidence, there are, however, important differences, such as the different patterns of muscle weakness, and the good response to treatment observed in some patients. Larger-scale studies are certainly needed to clarify pathogenesis and clinical characteristics of PM-Mito patients, especially in therapeutic and prognostic terms. © 2019, Springer-Verlag GmbH Germany, part of Springer Nature.
Συγγραφείς:
Papadimas, G.K.
Kokkinis, C.
Xirou, S.
Chrysanthou, M.
Kararizou, E.
Papadopoulos, C.
Περιοδικό:
Rheumatology International
Λέξεις-κλειδιά:
calcium; calcium plus colecalciferol; immunoglobulin; methotrexate; methylprednisolone; mitochondrial DNA; prednisone; glucocorticoid; immunosuppressive agent; mitochondrial DNA, adult; aged; case report; clinical article; disorders of mitochondrial functions; drug dose reduction; female; histopathology; human; human tissue; inclusion body myositis; leg muscle; middle aged; muscle biopsy; muscle weakness; polymyositis; priority journal; Review; sporadic inclusion body myositis; biopsy; differential diagnosis; drug effect; gene deletion; genetics; inclusion body myositis; muscle mitochondrion; pathology; pathophysiology; polymyositis; predictive value; skeletal muscle; treatment outcome, Adult; Aged; Biopsy; Diagnosis, Differential; DNA, Mitochondrial; Female; Gene Deletion; Glucocorticoids; Humans; Immunosuppressive Agents; Middle Aged; Mitochondria, Muscle; Muscle Weakness; Muscle, Skeletal; Myositis, Inclusion Body; Polymyositis; Predictive Value of Tests; Treatment Outcome
DOI:
10.1007/s00296-019-04314-8
