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A difficult case
Anti-HMGCR myopathy: barriers to prompt recognition
  1. Andrea Barp1,2,
  2. Ashirwad Merve2,3,
  3. Sachit Shah4,
  4. Mahalekshmi Desikan5,
  5. Michael G Hanna2,
  6. Enrico Bugiardini2
  1. 1Centro Clinico NeMO Trento, Ospedale Riabilitativo Villa Rosa, Pergine Valsugana, Italy
  2. 2Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK
  3. 3Department of Neuropathology, National Hospital for Neurology and Neurosurgery, London, UK
  4. 4Lysholm Department of Neuroradiology, University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery, London, UK
  5. 5Neuromuscular Complex Care Centre, National Hospital for Neurology and Neurosurgery, London, UK
  1. Correspondence to Dr Enrico Bugiardini, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, London, UK; e.bugiardini{at}ucl.ac.uk

Abstract

Anti-HMGCR (3-hydroxy-3-methylglutaryl coenzyme A reductase) myopathy is an immune-mediated necrotising myopathy. Atypical presentations hinder its recognition and its prompt treatment. We present two patients with atypical clinical or pathological features. A 45-year-old woman had an asymptomatic serum creatine kinase (CK) of ~10 000 IU/L and muscle biopsy showing minimal changes. She then developed slowly progressive proximal weakness, diagnosed as limb-girdle muscular dystrophy but with negative genetics. Twelve years later, now with severe proximal weakness, her MR scan of muscle showed diffuse asymmetrical fatty degeneration, with conspicuous hyperintense STIR signal abnormalities. HMGCR antibodies were positive and she partially improved with immunosuppression. The second patient developed slowly progressive proximal limb weakness with a high serum CK (~4000 IU/L); muscle biopsy showed a lymphocyte infiltrate with angiocentric distribution suggesting vasculitis. Serum HMGCR antibodies were positive. Anti-HMGCR myopathy can present as a slowly progressive myopathy with atypical pathology. HMGCR antibody screening is indicated for people with suspected limb-girdle muscular dystrophy or atypical inflammatory muscle conditions.

  • MYOPATHY
  • POLYMYOSITIS
  • VASCULITIS
  • MUSCULAR DYSTROPHY

Data availability statement

Data are available on reasonable request.

https://doi.org/10.1136/pn-2022-003589

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    Data availability statement

    Data are available on reasonable request.

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    Footnotes

    • Twitter @E_Bugiardini

    • Contributors AB complied case reports and drafted the manuscript. AM provided histopathology images, reviewed and edited the manuscript. SS provided neuroradiology images, reviewed and edited the manuscript. MD collected clinical data of one case, critically reviewed the manuscript. MGH contributed to study concept and critically reviewed the manuscript. EB conceived and designed the study, reviewed and edited the manuscript.

    • Funding The University College London Hospitals/University College London Queen Square Institute of Neurology sequencing facility receives a proportion of funding from the Department of Health’s National Institute for Health Research Biomedical Research Centres funding scheme. M.G.H. is funded by a Medical Research Council (UK) strategic award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) (MR/S005021/1).

    • Competing interests None declared.

    • Provenance and peer review Not commisioned; externally reviewed by Jon Walters, Swansea, UK.

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