Chronic myopathy due to immunoglobulin light chain amyloidosis

Irini Manoli, Justin Y. Kwan, Qian Wang, Elisabeth J. Rushing, Maria Tsokos, Andrew E. Arai, Warner M. Burch, Angela Dispenzieri, Alexandra C. McPherron, William A. Gahl

Research output: Contribution to journalArticle

9 Scopus citations

Abstract

Amyloid myopathy associated with a plasma cell dyscrasia is a rare cause of muscle hypertrophy. It can be a challenging diagnosis, since pathological findings are often elusive. In addition, the mechanism by which immunoglobulin light-chain deposition stimulates muscle overgrowth remains poorly understood. We present a 53-year old female with a 10-year history of progressive generalized muscle overgrowth. Congo-red staining and immunohistochemistry revealed perivascular lambda light chain amyloid deposits, apparent only in a second muscle biopsy. The numbers of central nuclei and satellite cells were increased, suggesting enhanced muscle progenitor cell formation. Despite the chronicity of the light chain disease, the patient showed complete resolution of hematologic findings and significant improvement of her muscle symptoms following autologous bone marrow transplantation. This case highlights the importance of early diagnosis and therapy for this treatable cause of a chronic myopathy with muscle hypertrophy.

Original languageEnglish (US)
Pages (from-to)249-254
Number of pages6
JournalMolecular genetics and metabolism
Volume108
Issue number4
DOIs
StatePublished - Apr 1 2013

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Keywords

  • Amyloidosis
  • Muscle hypertrophy
  • Pax7
  • Satellite cells

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

Cite this

Manoli, I., Kwan, J. Y., Wang, Q., Rushing, E. J., Tsokos, M., Arai, A. E., Burch, W. M., Dispenzieri, A., McPherron, A. C., & Gahl, W. A. (2013). Chronic myopathy due to immunoglobulin light chain amyloidosis. Molecular genetics and metabolism, 108(4), 249-254. https://doi.org/10.1016/j.ymgme.2013.01.015