Concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody with reducing body myopathy: Possible double trouble

Tanboon, Jantima; Sanmaneechai, Oranee; Charuvanij, Sirirat; Sangruchi, Tumtip; Galindo-Feria, A. S.; Lundberg, Ingrid E.; Ohnuki, Yuko; Shiina, Takashi; Suzuki, Shigeaki; Nishino, Ichizo

doi:10.1016/j.nmd.2019.05.007

Cited by 15 publications

(6 citation statements)

References 26 publications

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“…Mohassel et al [27] reported an anti-HMGCR-positive IMNM case with a more indolent disease course but favourable clinical response to immunotherapy, which is easy to confuse with muscular dystrophy. Tanboon et al [28] also reported that concurrent anti-HMGCR antibodies and gene mutations indicated the possibility of co-occurrence of IMNM and muscular dystrophy. Thus, testing for these autoantibodies should be an essential part of the evaluation of children with symptoms resembling hereditary muscular disorders.…”

Section: Discussionmentioning

confidence: 99%

Clinical and pathological features of immune-mediated necrotising myopathies in a single-centre muscle biopsy cohort

Yang

Tian

Zhang

et al. 2022

BMC Musculoskelet Disord

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Objective Immune-mediated necrotising myopathy (IMNM) is a subset of idiopathic inflammatory myopathies (IIM) characterized by significantly elevated creatine kinase level, muscle weakness and predominant muscle fibre necrosis in muscle biopsy. This study aimed to investigate the clinical and pathological characteristics of patients with IMNM in a single-centre muscle biopsy cohort. Methods A total of 860 patients who had muscle biopsy reports in our centre from May 2008 to December 2017 were enrolled in this study. IMNM was diagnosed according to the 2018 European Neuromuscular Centre (ENMC) clinicopathological diagnostic criteria for IMNM. Results The muscle biopsy cohort consisted of 531 patients with IIM (61.7%), 253 patients with non-IIM (29.4%), and 76 undiagnosed patients (8.8%). IIM cases were classified as IMNM (68[7.9%]), dermatomyositis (346[40.2%]), anti-synthetase syndrome (82[9.5%]), polymyositis (32[3.7%]), and sporadic inclusion body myositis (3[0.3%]). Limb girdle muscular dystrophy (LGMD) 2B and lipid storage myopathy (LSM) are the two most common non-IIM disorders in our muscle biopsy cohort. IMNM patients had a higher onset age (41.57 ± 14.45 vs 21.66 ± 7.86 and 24.56 ± 10.78, p < .0001), shorter duration (21.79 ± 26.01 vs 66.69 ± 67.67 and 24.56 ± 10.78, p < .0001), and more frequent dysphagia (35.3% vs. 3.4 and 6.3%, p = .001) than LGMD 2B and LSM patients. Muscle biopsy from IMNM showed more frequent muscle fibre necrosis (95.6% vs 72.4 and 56.3%, p < .0001), overexpression of major histocompatibility complex-I on sarcolemma (83.8% vs 37.9 and 12.9%, p < .0001), and CD4+ T cell endomysia infiltration (89.7% vs 53.6 and 50%, p < .0001) compared with those from LGMD 2B and LSM patients. Conclusions It is easy to distinguish IMNM from other IIM subtypes according to clinical symptoms and myositis specific antibodies profiles. However, distinguishing IMNM from disorders clinically similar to non-IIM needs combined clinical, serological and pathological features.

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Section: Discussionmentioning

confidence: 99%

Clinical and pathological features of immune-mediated necrotising myopathies in a single-centre muscle biopsy cohort

Yang

Tian

Zhang

et al. 2022

BMC Musculoskelet Disord

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“…Schreckenbach et al 8 described a patient with FHL1 myopathy with increased macrophage reaction on the muscle biopsy. Tanboon et al 9 described a boy with weakness initiated at 4 years old, a very high serum CK level, and endomysial inflammatory cell infiltration, mainly macrophages, that had an FHL1 pathogenic variant and concomitant anti-HMGCR antibody. In that case, differently from pediatric patients with positive anti-HMGCR who respond to immunotherapies, the patient with a concomitant FHL1 variant and IMNM did not improve with the treatment.…”

Section: Discussionmentioning

confidence: 99%

Child Neurology: A Case of FHL1 -Related Disease Presenting as Inflammatory Myopathy

et al. 2021

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“…Mohassel et al [19] reported an anti-HMGCR-positive IMNM case with a more indolent disease course but favourable clinical response to immunotherapy, which is easy to confuse with muscular dystrophy. Tanboon et al [20] also reported that concurrent anti-HMGCR antibodies and gene mutations indicated the possibility of co-occurrence of IMNM and muscular dystrophy. Thus, testing for these antiantibodies should be an essential part of the evaluation of children with symptoms resembling hereditary muscular disorders.…”

Section: Clinical and Pathological Characteristics Of Imnm In The Iim Groupmentioning

confidence: 99%

Clinical and Pathological Features of Immune-Mediated Necrotising Myopathies in a Single-Centre Muscle Biopsy Cohort

Yang

Tian

Zhang

et al. 2022

Preprint

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Objective Immune-mediated necrotising myopathy (IMNM) is a recently entitled novel subset of idiopathic inflammatory myopathies (IIM) characterized by significant elevated creatine kinase (CK) level, muscle weakness and predominant muscle fibre necrosis in muscle biopsy. This study aimed to investigate the clinical and pathological characteristics of patients with IMNM in our single-centre muscle biopsy cohort. Methods A total of 860 patients who had muscle biopsy reports in our centre from May 2008 to December 2017 were enrolled in this study. IMNM was diagnosed in according with 2018 European Neuromuscular Centre (ENMC) clinicopathological diagnostic criteria for IMNM. Results The muscle biopsy cohort consisted of 531 patients with IIM (61.7%), 253 patients with non-IIM (29.4%), and 76 undiagnosed patients (8.8%). Among IIM patients, polymyositis (PM), dermatomyositis(DM), amyopathic dermatomyositis, juvenile DM, and inclusion body myositis were 182(21.2%), 236(27.4%), 83(9.7%), 18(2.1%) and 3(0.3%), respectively. In PM subgroup, 59 patients met serological and pathological characteristics of IMNM according to 2018 ENMC criteria including 29 anti-SRP-positive patients,10 anti-HMGCR-positive patients and 20 MSA-negative patients. Limb girdle muscular dystrophy (LGMD) 2B and lipid storage myopathy (LSM) were 29 and 16 respectively, which present similar manifestations of IMNM with elevated CK levels and muscle weakness among non-IIM group. IMNM patients had older age of onset (mean: 42.25 vs 21.66 and 24.56, p<0.0001), shorter duration of diseases (mean: 22.56 vs 66.69 and 48.94, p<0.0001) and more frequent of dysphagia (33.9% vs 3.4% and 6.3%, p<0.0001) compare to patients with LGMD 2B and LSM. Muscle biopsy from IMNM patients showed frequent muscle fibre necrosis (96.6% vs 72.4% and 56.3%, p<0.0001), overexpression of MHC-I on sarcolemma (81.4% vs 37.9% and 12.9%, p<0.0001) and CD4+ T cell endomysial infiltration (89.9% vs 53.6% and 50%, p<0.0001) compared with LGMD 2B and LSM patients. Conclusions It is easy to distinguish IMNM from other subtype of IIM according to clinical symptoms and MSAs profiles. However, distinguishing IMNM from disorders clinically similar non-IIM need to combine with clinical, serological and pathological features.

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Concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody with reducing body myopathy: Possible double trouble

Cited by 15 publications

References 26 publications

Clinical and pathological features of immune-mediated necrotising myopathies in a single-centre muscle biopsy cohort

Clinical and pathological features of immune-mediated necrotising myopathies in a single-centre muscle biopsy cohort

Child Neurology: A Case of FHL1 -Related Disease Presenting as Inflammatory Myopathy

Clinical and Pathological Features of Immune-Mediated Necrotising Myopathies in a Single-Centre Muscle Biopsy Cohort

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