Chapter 158 Amyloidosis
Etiology
The traditional amyloidosis classification system uses the descriptive terms systemic and localized, which do not designate the etiology or associated clinical manifestations. The systemic, or multisystem, amyloidoses correspond to clinical patterns of primary, secondary, familial, and dialysis-related amyloidosis. The localized, or organ-limited, amyloidoses are associated with aging and diabetes and occur in isolated organs such as endocrine glands, without systemic involvement. The newer nomenclature for amyloidoses is based on biochemical analysis and uses A for amyloid followed by the abbreviation for the type of fibril protein. The most common type of amyloidosis in the USA has deposition of amyloid composed of pieces of monoclonal immunoglobulin light-chain (abbreviated as L) and is referred to as AL amyloidosis (formerly known as idiopathic amyloidosis or myeloma-associated amyloidosis). Amyloidosis in patients with the hereditary periodic fever syndromes (including familial Mediterranean fever [FMF], tumor necrosis factor receptor–associated periodic syndrome [TRAPS], CAPS, and hyperimmunoglobulinemia D syndrome [HIDS]), other autoinflammatory disorders, chronic infection, and chronic inflammatory diseases involving amyloid A protein is referred to as AA amyloidosis (formerly referred to as secondary or reactive amyloidosis). AA amyloidosis is the most common serious complication of FMF and TRAPS (Chapter 157). Amyloid conditions associated with aging (Alzheimer disease) as well as several rare autosomal dominant forms of amyloidoses have fibril protein composed of variants of the transport protein transthyretin (TTR) and are now referred to as TTR amyloidosis.
David J, Vouyiouka O, Ansell BM, et al. Amyloidosis in juvenile chronic arthritis: a morbidity and mortality study. Clin Exp Rheumatol. 1993;11:85-90.
Delibas A, Oner A, Balci B, et al. Genetic risk factors of amyloidogenesis in familial Mediterranean fever. Am J Nephrol. 2005;25:434-440.
Drewe E, Huggins ML, Morgan AG, et al. Treatment of renal amyloidosis with etanercept in tumor necrosis factor receptor-associated periodic syndrome. Rheumatology. 2004;43:1405-1408.
Gillmore JD, Lovat LB, Persey MR, et al. Amyloid load and clinical outcome in AA amyloidosis in relation to circulating concentration of serum amyloid A protein. Lancet. 2001;358:24-29.
Gottenberg JE, Merle-Vincent F, Bentaberry F, et al. Anti-tumor necrosis factor-α therapy in 15 patients with AA amyloidosis secondary to inflammatory arthritides. Arthritis Rheum. 2004;48:2019-2024.
Hirschfield GM. Amyloidosis: a clinico-pathophysiological synopsis. Semin Cell Dev Biol. 2004;14:39-44.
Lachmann HJ, Goodman HB, Gilbertson JA, et al. Natural history and outcome in systemic AA amyloidosis. N Engl J Med. 2007;356:2361-2371.
Livneh A, Langevitz P, Shinar Y, et al. MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever. Amyloid. 1999;6:1-6.
Okuda Y, Talasugi K. Successful use of a humanized anti-interleukin 6 receptor antibody, tocilizumab, to treat amyloid A amyloidosis complicating juvenile idiopathic arthritis. Arthritis Rheum. 2006;54:2997-3000.
Woo P. Amyloidosis in children. Baillieres Clin Rheumatol. 1994;8:691-697.