Diagnostyka i leczenie amyloidozy AL

Abstract

Light chain amyloidosis (AL amyloidosis) is a disease in which monoclonal immunoglobulin light chains, produced by clonal plasma cells are deposited extracellularly in the form of misfolded, insoluble protein complexes known as amyloid. This disease is a heterogeneous condition, due to the organ tropism, which varies among patients. Heart involvement prevails (80% of patients), whereas kidneys, liver and nervous system may be also involved. To diagnose AL amyloidosis, amyloid should be detected by staining tissue samples with Congo red, and the amyloid typing should reveal the immunoglobulin light chain character of the amyloid fibrils. The therapy usually focuses on the elimination of clonal plasma cells. Assigning the patient to the proper risk group (low, intermediate, high) is crucial. For younger patients of the low-risk group, high-dose melphalan with autologous hematopoietic stem cell transplantation (auto-HSCT) with optional bortezomib-based consolidation treatment should be considered. For the most numerous (70% of patients), intermediate-risk group, MDex (melphalan, dexamethasone), as well as bortezomib-based therapies should be given. Patients in the high-risk group should undergo a chemotherapy with reduced intensity. Refractory disease can be treated with IMIDs (immunomodulatory drugs), as well as new-generation proteasome inhibitors, bendamustine and monoclonal antibodies.