Division of Hematology, Mayo Clinic, Rochester, MN, USA; Institute of Hematology, Davidoff Cancer Center, Rabin Medical Center, Petah-Tikva, Israel; Israel Sackler Faculty of Medicine Tel-Aviv University, Tel-Aviv, Israel.
Division of Hematology, Mayo Clinic, Rochester, MN, USA.
Blood Rev. 2020 Mar;40:100636. doi: 10.1016/j.blre.2019.100636. Epub 2019 Nov 2.
Amyloidosis is a group of disorders characterized by a misfolded protein that deposits in organs and compromise their function. Clinician should have a high index of suspicion because in most cases, the clinical picture is non-specific. Typing of amyloid is of utmost importance and should be an integral part of accurately diagnosing a patient. AL amyloidosis is the most common systemic amyloidosis in the western world in which the misfolded proteins are immunoglobulin light chains secreted by clonal plasma cells. New data about prognostication of AL amyloidosis patients are accumulating. The treatment goal is to eradicate the amyloidogenic plasma cell clone, by using high dose melphalan and/or novel agents (proteasome inhibitors, immunomodulatory drugs, monoclonal antibodies against CD38). Early diagnosis is important for effectively treating the patient as late diagnosis hampers chances for organ recovery. ATTR amyloidosis is less recognized but is increasingly seen due to better recognition and improved diagnostic tools. New data about treatment options (patisiran, inotersen and tafamidis) have recently been published and are discussed.
淀粉样变性是一组由错误折叠的蛋白质在器官中沉积并损害其功能的疾病。临床医生应该高度怀疑淀粉样变性,因为在大多数情况下,临床表现是非特异性的。淀粉样变的分型至关重要,应该是准确诊断患者的一个组成部分。AL 淀粉样变性是西方世界最常见的系统性淀粉样变性,其中错误折叠的蛋白质是由克隆浆细胞分泌的免疫球蛋白轻链。关于 AL 淀粉样变性患者预后的新数据正在不断积累。治疗目标是通过使用大剂量美法仑和/或新型药物(蛋白酶体抑制剂、免疫调节剂、抗 CD38 单克隆抗体)来消除淀粉样变性浆细胞克隆。早期诊断对于有效治疗患者非常重要,因为晚期诊断会降低器官恢复的机会。ATTR 淀粉样变性的认识较少,但由于更好的认识和改进的诊断工具,越来越受到关注。最近发表了关于治疗选择(patisiran、inotersen 和 tafamidis)的新数据,并进行了讨论。