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Musculoskeletal manifestations of amyloidosis

Author
Peter D Gorevic, MD
Section Editor
Helen J Lachmann, MA, MB, BChir, MD, FRCP, FRCPath
Deputy Editor
Paul L Romain, MD

INTRODUCTION

Amyloidosis refers to the extracellular tissue deposition of fibrils that are composed of low-molecular-weight subunits (5 to 25 kD) derived from a variety of serum proteins. These fibrils adopt a beta-pleated-sheet-rich 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 amyloidosis (which may be a complication of plasma cell dyscrasias), a fragment of serum amyloid A (SAA) protein in AA amyloidosis (which is a complication of 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".)

A variety of amyloid types are associated with musculoskeletal disease, including AL, transthyretin (ATTR), and beta-2 microglobulin (A beta-2m) amyloidosis. These can be distinguished immunohistologically and biochemically and require different treatment strategies [1]. Musculoskeletal manifestations of 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 that can be complicated by AA amyloidosis are presented separately. (See "Causes and diagnosis of AA amyloidosis and relation to rheumatic diseases".)

AL AMYLOIDOSIS

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

                 
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Literature review current through: Nov 2017. | This topic last updated: Dec 06, 2017.
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