Chronic myopathy due to immunoglobulin light chain amyloidosis |
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| Authors: | 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 |
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| Affiliation: | 1. Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA;2. Intramural Program, Office of Rare Diseases Research, NIH, Bethesda, MD, USA;3. NIH Undiagnosed Diseases Program, NIH, Bethesda, MD, USA;4. Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA;5. Genetics of Development and Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD, USA;6. Department of Neuropathology, University of Zurich, Switzerland;7. Laboratory of Pathology, National Cancer Institute, Bethesda, MD, USA;8. Cardiovascular and Pulmonary Branch, National Heart, Lung and Blood Institute, NIH, Bethesda, MD, USA;9. Department of Endocrinology, Duke University Medical Center, Durham, NC, USA;10. Mayo Clinic Transplant Center, Rochester, MN, USA |
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| 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. |
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