RT Journal Article
SR Electronic
T1 Myositis-specific autoantibodies are specific for myositis compared to genetic muscle disease
JF Neurology - Neuroimmunology Neuroinflammation
JO Neurol Neuroimmunol Neuroinflamm
FD Lippincott Williams & Wilkins
SP e172
DO 10.1212/NXI.0000000000000172
VO 2
IS 6
A1 Andrew L. Mammen
A1 Livia Casciola-Rosen
A1 Lisa Christopher-Stine
A1 Thomas E. Lloyd
A1 Kathryn R. Wagner
YR 2015
UL http://nn.neurology.org/content/2/6/e172.abstract
AB Objective: To determine the specificity of myositis-specific autoantibodies (MSAs) for autoimmune myopathy compared with inherited muscle diseases.Methods: Serum samples from 47 patients with genetically confirmed inherited muscle diseases were screened for the most common MSAs, including those recognizing TIF1γ, NXP2, Mi2, MDA5, Jo1, SRP, and HMGCR. We compared these results with the findings in a cohort of patients with dermatomyositis (DM) previously screened for anti-TIF1γ, -NXP2, -Mi2, -MDA5, and -Jo1.Results: Overall, the presence of anti-TIF1γ, -NXP2, -Mi2, -MDA5, or -Jo1 was 96% specific and 67% sensitive for DM compared to patients with genetic muscle diseases. No patients with inherited muscle disease had anti-SRP or anti-HMGCR autoantibodies. Only 2 patients with genetic muscle disease had a MSA. One patient with anti-Mi2 autoantibodies had both genetically confirmed facioscapulohumeral dystrophy and dermatomyositis based on a typical skin rash and partial response to immunosuppressive medications. A second patient with anti-Jo-1 autoantibodies had both genetically defined limb-girdle muscular dystrophy type 2A (i.e., calpainopathy) and a systemic autoimmune process based on biopsy-confirmed lupus nephritis, sicca symptoms, and anti-Ro52 autoantibodies.Conclusions: The MSAs tested for in this study are highly specific for autoimmune muscle disease and are rarely, if ever, found in patients who only have genetic muscle disease. In patients with genetic muscle disease, the presence of a MSA should suggest the possibility of a coexisting autoimmune process.DM=dermatomyositis; FSHD=facioscapulohumeral dystrophy; HMGCR=HMG-CoA reductase; IMNM=immune-mediated necrotizing myopathy; IVTT=in vitro transcription and translation; LGMD=limb-girdle muscular dystrophies; MSA=myositis-specific autoantibody; PM=polymyositis