Chronic myopathy due to immunoglobulin light chain amyloidosis

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.

► Isolated muscle pseudohypertrophy is a rare presentation of systemic amyloidosis.
► Muscle biopsy can be unrevealing and clinical suspicion is critical for diagnosis.
► Increased satellite cell proliferation may underlie the pathogenesis in this disease.
► Bone marrow transplantation is the only effective treatment if administered timely.