Systemic amyloidosis: a challenge for the rheumatologist

Abstract

Amyloidosis comprises a group of diseases characterized by the extracellular deposition of insoluble fibrillar proteins. This mechanism generates different clinical syndromes depending on the site and extent of organ involvement. Amyloidosis is classified into categories of systemic and localized disease. Systemic amyloidosis is further subdivided into a hereditary familial form (for example, ATTR amyloidosis), a reactive form (AA amyloidosis), dialysis-related (Abeta(2)M) amyloidosis and immunoglobulin light chain (AL) amyloidosis. Treatment can be symptomatic, directed at the affected organ, or can be directed at reducing the production of the abnormal proteins with different strategies. Despite advances in treatment, the prognosis is still poor and depends on the underlying disease as well as the type and degree of dysfunction in involved organs. Early diagnosis is essential because patients with advanced disease are generally unable to undergo intensive therapy. Patients with systemic amyloidosis often present to a rheumatologist not only because the disease can include musculoskeletal and articular symptoms but also because it can be associated with chronic rheumatic diseases. This Review discusses the clinical features of amyloidosis and its rheumatic manifestations. The various types of amyloidosis, as well their prognosis and treatment, are also presented.

Manifestaciones cutáneas de amiloidosis sistémica como clave diagnóstica: Caso clínico

“…Puede ser secundaria a un gran número de enfermedades infl amatorias crónicas (enfermedades reumatológicas, enfermedad infl amatoria intestinal, etc. ), infecciones crónicas y neoplasias [1][2][3] . El depósito de amiloide en la piel y tejido subcutáneo se ha descrito en 40% de las amiloidosis sistémicas 4 , siendo más frecuente de encontrar en amiloidosis AL que en AA.…”

İnterstisyel Akciğer Hastalığını Taklit Eden Pulmoner Amiloidoz

“…Localized type of amyloidosis in the lung can be seen in two forms: limited bronchopulmonary amyloidosis, which is usually AL type, may manifest itself as either tracheobronchial deposits or parenchymal nodules and sometimes masses in the lung paranchyme (2-5), diffuse interstitial pulmonary amyloidosis which clinically presents as recurrent pneumonias, cough, and bronchiectasis, is rare and usually associated with systemic AL type of amyloidosis and usually there are deposits in the alveolar-capillary gas exchange zone (10). Amyloidosis may also manifest itself as pulmonary hypertension, hilar and mediastinal lymphadenopathy or pleural involvement (1,3,4). AL type of amyloidosis may be associated also with pulmonary lymphoma (11).…”

“…Amyloid is composed of insoluble proteins and is easily deposited in various organs (1). In primary systemic amyloidosis, clonally expanded plasma cells that are located in the bone marrow produce monoclonal immunuolobulin (Ig) light chains, and these light chains accumulate in the extracellular matrix of many organs, and later cause organ dysfunction.…”

Tocilizumab for the Treatment of AA Amyloidosis

“…The concentration of CRP is therefore a hallmark for determining whether tocilizumab completely blocks IL-6 activity in vivo. The goal of therapy for AA amyloidosis is treatment of the underlying disorder (Perfetto et al, 2010). Treatment that suppresses the inflammatory activity reduces circulating levels of the SAA protein, but since AA amyloidosis occurs as a complication of chronic inflammatory diseases treated with conventional regimen(s), it is clear that the current treatment of the underlying disorder is not adequate for the prevention of AA amyloidosis development.…”