TY - JOUR
T1 - Inflammatory myopathy associated with anti-mitochondrial antibodies
T2 - A distinct phenotype with cardiac involvement
AU - Albayda, Jemima
AU - Khan, Aamna
AU - Casciola-Rosen, Livia
AU - Corse, Andrea M.
AU - Paik, Julie J.
AU - Christopher-Stine, Lisa
N1 - Publisher Copyright:
© 2018 Elsevier Inc.
PY - 2018/2
Y1 - 2018/2
N2 - Objective In the context of clinical evaluations performed on our prospective myositis cohort, we noted a striking association of severe cardiac disease in myositis patients with anti-mitochondrial antibodies. We sought to review all cases of anti-mitochondrial antibody (AMA) associated myositis in our cohort to describe the clinical features of this disease subset. Methods We identified 7 patients with confirmed anti-mitochondrial antibodies who presented as an inflammatory myopathy. A retrospective chart review was completed to assess their clinical presentation, laboratory, imaging, electrophysiologic, and histopathologic features. Results One patient presented with dermatomyositis and 6 were classified as polymyositis using Bohan and Peter criteria. In all but one patient, a chronic course of muscle involvement was appreciated with an average of 6.5 years of weakness prior to presentation. Muscle atrophy was often noted, as well as atypical findings of scapular winging in 2 of the patients. Muscle biopsies were consistent with immune-mediated necrotizing myopathy in 4 patients, dermatomyositis in 1, polymyositis in 1 and nonspecific or granulomatous myositis in 1 patient. Changes pointing to mitochondrial alterations were seen in 2 of the 7 patients. Cardiac involvement (including myocarditis, atrial and ventricular arrhythmias, and cardiomyopathy), was seen in 5 out of 7 (71%) of the patients, and usually preceded the muscle involvement. Coexisting autoimmune conditions were seen in 3/7of the patients and included primary biliary cirrhosis, autoimmune hepatitis, psoriasis, and Hashimoto's thyroiditis. Conclusions Anti-mitochondrial antibodies identify a distinct inflammatory myopathy phenotype that is frequently associated with chronic skeletal muscle disease and severe cardiac involvement. Early recognition of this rare entity as an immune-mediated process is important due to implications for treatment. We propose that anti-mitochondrial antibody status should be determined in patients with a compatible clinical picture.
AB - Objective In the context of clinical evaluations performed on our prospective myositis cohort, we noted a striking association of severe cardiac disease in myositis patients with anti-mitochondrial antibodies. We sought to review all cases of anti-mitochondrial antibody (AMA) associated myositis in our cohort to describe the clinical features of this disease subset. Methods We identified 7 patients with confirmed anti-mitochondrial antibodies who presented as an inflammatory myopathy. A retrospective chart review was completed to assess their clinical presentation, laboratory, imaging, electrophysiologic, and histopathologic features. Results One patient presented with dermatomyositis and 6 were classified as polymyositis using Bohan and Peter criteria. In all but one patient, a chronic course of muscle involvement was appreciated with an average of 6.5 years of weakness prior to presentation. Muscle atrophy was often noted, as well as atypical findings of scapular winging in 2 of the patients. Muscle biopsies were consistent with immune-mediated necrotizing myopathy in 4 patients, dermatomyositis in 1, polymyositis in 1 and nonspecific or granulomatous myositis in 1 patient. Changes pointing to mitochondrial alterations were seen in 2 of the 7 patients. Cardiac involvement (including myocarditis, atrial and ventricular arrhythmias, and cardiomyopathy), was seen in 5 out of 7 (71%) of the patients, and usually preceded the muscle involvement. Coexisting autoimmune conditions were seen in 3/7of the patients and included primary biliary cirrhosis, autoimmune hepatitis, psoriasis, and Hashimoto's thyroiditis. Conclusions Anti-mitochondrial antibodies identify a distinct inflammatory myopathy phenotype that is frequently associated with chronic skeletal muscle disease and severe cardiac involvement. Early recognition of this rare entity as an immune-mediated process is important due to implications for treatment. We propose that anti-mitochondrial antibody status should be determined in patients with a compatible clinical picture.
KW - Anti-mitochondrial antibodies
KW - Arrhythmia
KW - Cardiomyopathy
KW - Myocarditis
KW - Myositis
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U2 - 10.1016/j.semarthrit.2017.06.004
DO - 10.1016/j.semarthrit.2017.06.004
M3 - Article
C2 - 28893408
AN - SCOPUS:85028861937
SN - 0049-0172
VL - 47
SP - 552
EP - 556
JO - Seminars in Arthritis and Rheumatism
JF - Seminars in Arthritis and Rheumatism
IS - 4
ER -