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Anti-HMGCR Myopathy.

Payam Mohassel1, Andrew L Mammen2

  • 1National Institutes of Health, NINDS, Bethesda, MD, USA.

Journal of Neuromuscular Diseases
|February 27, 2018
PubMed
Summary

Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) myopathy is an autoimmune condition. Research expands understanding of its clinical features, diagnosis, and treatment in diverse patient groups.

Keywords:
Anti-HMGCR myopathyautoimmunitylimb-girdle muscular dystrophymyositisnecrotizing myopathy

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Area of Science:

  • Neurology
  • Immunology
  • Genetics

Background:

  • Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) myopathy initially recognized in statin-exposed patients.
  • Expanded understanding includes pediatric and adult cases without statin exposure, presenting chronic myopathy.
  • Phenotypic spectrum now includes statin-associated and idiopathic forms, highlighting autoimmune necrotizing myopathy.

Purpose of the Study:

  • To summarize clinical, pathological, and imaging findings in anti-HMGCR myopathy.
  • To review immunogenetic risk factors and current treatment strategies.
  • To elucidate pathophysiology and propose a model for autoimmunity in anti-HMGCR myopathy.

Main Methods:

  • Literature review and synthesis of international patient data.
  • Analysis of clinical presentations, muscle pathology, and imaging characteristics.
  • Review of immunogenetic associations and therapeutic outcomes.

Main Results:

  • Anti-HMGCR myopathy presents a spectrum from acute necrotizing to chronic myopathic phenotypes.
  • Statin exposure is a risk factor, but idiopathic cases are increasingly recognized.
  • Specific autoantibodies and genetic factors contribute to disease susceptibility and presentation.

Conclusions:

  • Anti-HMGCR myopathy is a distinct autoimmune disorder with a broad clinical spectrum.
  • Comprehensive understanding aids in diagnosis, management, and therapeutic monitoring.
  • Further research into pathophysiology may reveal novel therapeutic targets.