Division of Hematology, Mayo Clinic, Rochester, MN 55905, USA.
Leukemia. 2012 Feb;26(2):191-8. doi: 10.1038/leu.2011.219. Epub 2011 Aug 26.
Immunoglobulin light chain amyloidosis is a protein deposition disorder where the precursor protein represents a monoclonal immunoglobulin light or heavy chain. Deposition in viscera results in restrictive cardiomyopathy, nephrotic range proteinuria, demyelinating peripheral neuropathy, hepatomegaly and malabsorption syndrome. Diagnosis requires biopsy with Congo red staining. Invasive biopsies are not required generally. It is essential that after a histologic diagnosis is obtained, the tissue is validated to have an immunoglobulin light chain composition so patients are spared unnecessary chemotherapy. The disease prognosis and patient monitoring are linked to serialized measurement of cardiac biomarkers and immunoglobulin-free light chains. Most patients require cytotoxic chemotherapy. For some patients, this therapy involves stem cell collection and myeloablative chemotherapy; for others, chemotherapy includes an alkylator and a corticosteroid; and for some, it involves addition of a novel agent in the form of an immunomodulatory drug or a proteasome inhibitor. Delays in diagnosis continue to be an obstacle to initiating effective therapy. Early mortality rates remain high. Effective chemotherapy can result in reversal of organ dysfunction and recovery. Reductions in light chain production translate to improved survival.
免疫球蛋白轻链淀粉样变性是一种蛋白质沉积紊乱，其前体蛋白代表单克隆免疫球蛋白轻链或重链。内脏沉积导致限制性心肌病、肾病范围蛋白尿、脱髓鞘周围神经病、肝肿大和吸收不良综合征。诊断需要刚果红染色活检。通常不需要进行有创性活检。在获得组织学诊断后，必须对组织进行免疫球蛋白轻链成分验证，以避免不必要的化疗，这一点至关重要。疾病预后和患者监测与心脏生物标志物和无免疫球蛋白轻链的序列化测量相关。大多数患者需要细胞毒性化疗。对于某些患者，这种治疗包括干细胞采集和骨髓清除性化疗；对于其他患者，化疗包括烷化剂和皮质类固醇；对于某些患者，它涉及以免疫调节剂药物或蛋白酶体抑制剂的形式添加新型药物。诊断延误仍然是启动有效治疗的障碍。早期死亡率仍然很高。有效的化疗可以逆转器官功能障碍和恢复。轻链产量的减少可转化为生存的改善。
