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Clinical Problem Solving: An Older Woman With Weakness from Head to Toe.

David A Hartmann1, Meredith Bock2, Vanja Douglas2

  • 1Department of Neurology & Neurological Sciences, Stanford University School of Medicine, Stanford, CA, USA.

The Neurohospitalist
|December 24, 2021
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Summary
This summary is machine-generated.

A 67-year-old woman was diagnosed with immune-mediated necrotizing myopathy due to anti-HMGCoA reductase autoantibodies. Her case also revealed a gastrointestinal stromal tumor and anti-NXP2 antibodies.

Keywords:
autoimmune diseases of the nervous systemclinical specialtyeducationmuscular diseasesmyositisneuromuscular diseaseneuromuscular diseasestechniques

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Area of Science:

  • Neurology
  • Immunology
  • Oncology

Background:

  • Immune-mediated necrotizing myopathy (IMNM) is a rare autoimmune condition characterized by muscle weakness and elevated creatine kinase.
  • Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) autoantibodies are associated with IMNM, often linked to statin exposure, but can occur without it.
  • Co-occurrence of IMNM with other autoimmune conditions or malignancies is increasingly recognized.

Purpose of the Study:

  • To present a complex case of IMNM.
  • To highlight the diagnostic challenges and management of anti-HMGCR autoantibody-positive myopathy.
  • To discuss the significance of co-occurring gastrointestinal stromal tumor (GIST) and anti-nuclear matrix protein 2 (anti-NXP2) antibodies.

Main Methods:

  • Clinical case presentation detailing patient's symptoms, diagnostic workup, and treatment.
  • Serological testing for myositis-specific autoantibodies (MSAs), including anti-HMGCR and anti-NXP2.
  • Imaging studies for malignancy screening, leading to GIST discovery.

Main Results:

  • Diagnosis of IMNM confirmed by muscle biopsy and positive anti-HMGCR autoantibodies.
  • Concurrent identification of a gastrointestinal stromal tumor (GIST).
  • Detection of anti-nuclear matrix protein 2 (anti-NXP2) autoantibodies, another MSA.

Conclusions:

  • This case underscores the importance of comprehensive autoantibody profiling in IMNM.
  • The co-occurrence of anti-HMGCR myopathy, GIST, and anti-NXP2 antibodies presents a unique clinical scenario.
  • Further research is warranted to understand the potential links between these conditions and their implications for patient management.