AL amyloidosis

• Autores: Majid Kazmi
• Localización: Medicine, ISSN-e 1357-3039, Vol. 41, Nº. 5, 2013, págs. 299-301
• Idioma: inglés
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• Resumen

  • Amyloidosis is a rare group of disorders with protean manifestations characterized by the deposition in tissue of misfolded protein. The body's capacity to remove such deposits is poor, resulting in progressive accumulation of amyloid deposits and disruption of organ function. Among patients with systemic amyloidosis, AL type is more common than AA type (secondary amyloidosis), which is caused by a chronic infection or chronic inflammatory disease.

    The familial types of amyloidoses are rare, with an estimated incidence of less than 1 per 100,000. They are autosomal dominant inherited diseases with manifestations of amyloid deposition not developing until mid-life. The most common form is caused by mutations in the transthyretin (TTR) protein.

    This chapter will focus on AL amyloidosis, formerly known as primary amyloidosis, which most frequently affects the kidneys, heart, liver and peripheral nervous system. Fatigue and weight loss are common but the diagnosis is rarely made until symptoms referable to a particular organ appear. Untreated, it is progressive and fatal within two years in about 80% of patients. There is a three-step approach to diagnosis and investigation of AL amyloid, which involves establishing the diagnosis; assessing the extent of organ involvement; and excluding a plasma cell dyscrasia or lymphoma. Treatment is directed towards reducing the production of amyloidogenic light chains and stabilizing organ function. New drugs such as bortezomib show real promise in rapidly reducing light chain burden whilst being well tolerated. Future developments will focus on reducing the amyloid load by interfering with the misfolding of the proteins or interaction with serum amyloid P protein.