Header

UZH-Logo

Maintenance Infos

Chronic myopathy due to immunoglobulin light chain amyloidosis


Manoli, Irini; Kwan, Justin Y; Wang, Qian; Rushing, Elisabeth J; Tsokos, Maria; Arai, Andrew E; Burch, Warner M; Dispenzieri, Angela; McPherron, Alexandra C; Gahl, William A (2013). Chronic myopathy due to immunoglobulin light chain amyloidosis. Molecular Genetics and Metabolism, 108(4):249-254.

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.

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.

Statistics

Citations

Dimensions.ai Metrics
6 citations in Web of Science®
7 citations in Scopus®
6 citations in Microsoft Academic
Google Scholar™

Altmetrics

Downloads

0 downloads since deposited on 17 Oct 2013
0 downloads since 12 months

Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Institute of Neuropathology
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Language:English
Date:2013
Deposited On:17 Oct 2013 11:02
Last Modified:16 Feb 2018 18:10
Publisher:Elsevier
ISSN:1096-7192
OA Status:Closed
Publisher DOI:https://doi.org/10.1016/j.ymgme.2013.01.015
PubMed ID:23465863

Download