Orthopaedic Manifestations of Amyloidosis

Abstract

Amyloidosis is a disorder of misfolded proteins in human tissues, which can result in morbid cardiac and neurological disease. Historically, the utility of tissue biopsy during orthopaedic procedures to detect amyloidosis has been limited because no disease-modifying therapies were available; however, new drug therapies have recently emerged for the treatment of amyloidosis. Although these novel pharmaceuticals show promise for slowing disease progression, they are primarily effective in the early stages of amyloidosis, underscoring the importance of early diagnosis. Common orthopaedic manifestations of amyloidosis include carpal tunnel syndrome, trigger finger, spontaneous distal biceps tendon rupture, rotator cuff disease, and lumbar spinal stenosis. Carpal tunnel syndrome is frequently the earliest manifestation of amyloidosis, on average preceding a formal diagnosis of amyloidosis by over four years. By recognizing the constellation of musculoskeletal symptoms in the patient with amyloidosis, orthopaedic surgeons can play an active role in patient referral, early detection of systemic disease, and prompt initiation of disease-modifying treatment. There may be a role for selective biopsy for amyloid deposition in at-risk patients during routine orthopaedic procedures.

Amyloidosis of the Femoral Neck: An Unusual Cause of Pathologic Fracture

“…AL amyloidosis involves the deposition of misfolded monoclonal immunoglobulin kappa or lambda light chains within human tissue and affects approximately 50 per 1 million people per year [ 1 ]. While several organ systems may be involved, including the cardiac, neurologic, renal, pulmonary, hepatic, and hematologic systems, the musculoskeletal system is also affected by amyloid deposition in the bones and soft tissues [ 4 ].…”

“…Biopsied tissues at the time of orthopedic intervention should be sent for permanent histologic analysis with hematoxylin and eosin staining, and Congo red staining should be performed as a screening test for amyloid fibrils [ 5 ]. Tissues positive for apple-green birefringence on polarized light microscopy after Congo red staining should undergo further immunohistochemistry for typing, and patients with AL kappa or lambda amyloid deposition should be referred to a hematologist for evaluation for plasma cell dyscrasia [ 1 ].…”

“…Amyloidosis is a complicated multiorgan system disease characterized by the deposition and accumulation of amyloid, a misfolded protein in human tissue [ 1 ]. While the cardiac system is commonly affected, resulting in a restrictive cardiomyopathy and subsequent heart failure, orthopedic manifestations of amyloidosis are numerous and can affect the axial and appendicular musculoskeletal systems [ 1 ].…”

“…Amyloidosis is a complicated multiorgan system disease characterized by the deposition and accumulation of amyloid, a misfolded protein in human tissue [ 1 ]. While the cardiac system is commonly affected, resulting in a restrictive cardiomyopathy and subsequent heart failure, orthopedic manifestations of amyloidosis are numerous and can affect the axial and appendicular musculoskeletal systems [ 1 ]. Deposition of the amyloid protein within the musculoskeletal system can result in a variety of clinical symptoms, such as bilateral carpal tunnel syndrome, chronic synovitis of large joints, and destructive arthropathy of the spine [ 2 ].…”

Modern concepts of primary systemic AL-amyloidosis: the viewpoint of a gastroenterologist

“…6) [15,16]. Описаны ортопедические проявления системного AL-амилоидоза, такие как синдром карпального канала, спонтанный разрыв сухожилия дистального отдела двуглавой мышцы плеча, стеноз поясничного отдела позвоночника [17].…”