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

Abstract

Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy is less common in children but has been associated with more favorable prognosis than adult patients after immunotherapies. We report anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody positivity in a 6-year-old boy with progressive muscle weakness, scoliosis, spinal rigidity, multiple joint contractures, mild left ventricular hypertrophy, and elevated serum creatine kinase. In contrast to most of previously reported pediatric anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy, he showed little response to immunotherapies. Muscle biopsy contained changes suggestive of myofiber necrosis and regeneration and reducing bodies. The diagnosis of reducing body myopathy was later confirmed by reported c.368A>G (p.His123Arg) mutation in the FHL1 gene. Although the level of association between these two conditions is still inconclusive, this is the first report of concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody with reducing body myopathy emphasizing the possibility of co-occurrence of immune mediated necrotizing myopathy and muscular dystrophy and importance of comprehensive diagnostic investigations in unusual cases.

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  • Authors+Show Affiliations

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    Department of Pathology, Faculty of Medicine, Siriraj Hospital, Mahidol University, 2 Wanglang Road, Siriraj, Bangkok Noi, Bangkok 10700, Thailand; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan. Electronic address: jantima.tan@mahidol.ac.th.

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    Division of Neurology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

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    Division of Rheumatology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

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    Department of Pathology, Faculty of Medicine, Siriraj Hospital, Mahidol University, 2 Wanglang Road, Siriraj, Bangkok Noi, Bangkok 10700, Thailand.

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    Division of Rheumatology, Department of Medicine, Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.

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    Division of Rheumatology, Department of Medicine, Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.

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    Department of Medical Ethics, Tokai University School of Medicine, Kanagawa, Japan.

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    Department of Molecular Life Science, Tokai University School of Medicine, Kanagawa, Japan.

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    Department of Neurology, Keio University School of Medicine, Tokyo, Japan.

    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan; Departments of Genome Medicine Development and Clinical Genome Analysis, Medical Genome Center (MGC), National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.

    Source

    Pub Type(s)

    Journal Article

    Language

    eng

    PubMed ID

    31204143

    Citation

    Tanboon, Jantima, et al. "Concurrent Positive Anti-3-hydroxy-3-methylglutaryl-coenzyme a Reductase Antibody With Reducing Body Myopathy: Possible Double Trouble." Neuromuscular Disorders : NMD, 2019.
    Tanboon J, Sanmaneechai O, Charuvanij S, et al. Concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody with reducing body myopathy: Possible double trouble. Neuromuscul Disord. 2019.
    Tanboon, J., Sanmaneechai, O., Charuvanij, S., Sangruchi, T., Galindo-Feria, A. S., Lundberg, I. E., ... Nishino, I. (2019). Concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody with reducing body myopathy: Possible double trouble. Neuromuscular Disorders : NMD, doi:10.1016/j.nmd.2019.05.007.
    Tanboon J, et al. Concurrent Positive Anti-3-hydroxy-3-methylglutaryl-coenzyme a Reductase Antibody With Reducing Body Myopathy: Possible Double Trouble. Neuromuscul Disord. 2019 May 23; PubMed PMID: 31204143.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody with reducing body myopathy: Possible double trouble. AU - Tanboon,Jantima, AU - Sanmaneechai,Oranee, AU - Charuvanij,Sirirat, AU - Sangruchi,Tumtip, AU - Galindo-Feria,Angeles S, AU - Lundberg,Ingrid E, AU - Ohnuki,Yuko, AU - Shiina,Takashi, AU - Suzuki,Shigeaki, AU - Nishino,Ichizo, Y1 - 2019/05/23/ PY - 2019/04/25/received PY - 2019/05/20/accepted PY - 2019/6/18/entrez KW - 3-hydroxy-3-methylglutaryl-coenzyme A reductase KW - FHL1 KW - HMGCR KW - IMNM KW - Immune mediated necrotizing myopathy KW - Reducing body myopathy JF - Neuromuscular disorders : NMD JO - Neuromuscul. Disord. N2 - Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy is less common in children but has been associated with more favorable prognosis than adult patients after immunotherapies. We report anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody positivity in a 6-year-old boy with progressive muscle weakness, scoliosis, spinal rigidity, multiple joint contractures, mild left ventricular hypertrophy, and elevated serum creatine kinase. In contrast to most of previously reported pediatric anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy, he showed little response to immunotherapies. Muscle biopsy contained changes suggestive of myofiber necrosis and regeneration and reducing bodies. The diagnosis of reducing body myopathy was later confirmed by reported c.368A>G (p.His123Arg) mutation in the FHL1 gene. Although the level of association between these two conditions is still inconclusive, this is the first report of concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody with reducing body myopathy emphasizing the possibility of co-occurrence of immune mediated necrotizing myopathy and muscular dystrophy and importance of comprehensive diagnostic investigations in unusual cases. SN - 1873-2364 UR - https://www.unboundmedicine.com/medline/citation/31204143/Concurrent_positive_anti-3-hydroxy-3-methylglutaryl-coenzyme_a_reductase_antibody_with_reducing_body_myopathy:_Possible_double_trouble L2 - https://linkinghub.elsevier.com/retrieve/pii/S0960-8966(19)30264-0 DB - PRIME DP - Unbound Medicine ER -