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Musculoskeletal manifestations of amyloidosis

Peter D Gorevic, MD
Section Editor
Peter H Schur, MD
Deputy Editor
Paul L Romain, MD


Amyloidosis refers to the extracellular tissue deposition of fibrils that are composed of low molecular weight subunits (5 to 25 kD) of a variety of serum proteins. These fibrils adopt a beta-pleated sheet configuration that is reflected in characteristic histologic changes. Amyloid deposits can occur in a variety of organs, with involvement of the heart, kidney, gastrointestinal tract, and nervous system often responsible for morbidity and mortality. (See "Overview of amyloidosis".)

The identity of the fibril subunit protein varies with the type of amyloidosis. It is a monoclonal immunoglobulin light chain or light chain fragment in AL (primary) amyloidosis (which is a plasma cell dyscrasia), a fragment of serum amyloid A protein in AA (secondary) amyloidosis, which is associated with chronic inflammatory disorders, and beta-2 microglobulin in dialysis-related amyloidosis. (See "Pathogenesis of immunoglobulin light chain (AL) amyloidosis and light and heavy chain deposition diseases" and "Pathogenesis of AA amyloidosis" and "Dialysis-related amyloidosis".)

The spectrum of musculoskeletal disease associated with amyloidosis includes AL, transthyretin (ATTR), and beta-2 microglobulin (A beta-2m) amyloidoses, which can be distinguished immunohistologically and biochemically, and by different treatment strategies and goals [1]. Musculoskeletal manifestations due to amyloid deposition may be subtle, subclinical, and only apparent when a tissue biopsy is carried out [2]. Rarely, patients present with a clinical picture that simulates a known rheumatic disease.

In addition, musculoskeletal disorders may be the cause rather than the result of AA amyloidosis. The rheumatic and other disorders associated with AA amyloidosis are presented separately. (See "Causes and diagnosis of secondary (AA) amyloidosis and relation to rheumatic diseases".)


Musculoskeletal manifestations of AL amyloid include muscle weakness and enlargement due to amyloid infiltration (myopathy), disorders of the joints (arthropathy), and lesions of bone (osteopathy).

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Literature review current through: Sep 2017. | This topic last updated: Aug 29, 2017.
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