Jimenez-Zepeda Victor, Bril Vera, Lemieux-Blanchard Emilie, Royal Virginie, McCurdy Arleigh, Schwartz Daniel, Davis Margot K
Department of Hematology, University of Calgary and Arnie Charbonneau Cancer Institute, Calgary, Alberta, Canada.
Division of Neurology, Department of Medicine, University of Toronto and University Health Network, Toranto, Ontario, Canada.
Clin Lymphoma Myeloma Leuk. 2023 Mar;23(3):194-202. doi: 10.1016/j.clml.2022.12.013. Epub 2022 Dec 24.
Amyloidosis is a rare protein misfolding disease caused by the accumulation of amyloid fibrils in various tissues and organs. There are different subtypes of amyloidosis, with light chain (AL) amyloidosis being the most common. Amyloidosis is notoriously difficult to diagnose because it is clinically heterogeneous, no single test is diagnostic for the disease, and diagnosis typically involves multiple specialists. Here, we propose an integrated, multidisciplinary algorithm for efficiently diagnosing amyloidosis. Drawing on research from several medical disciplines, we have combined clinical decisions and best practices into a comprehensive algorithm to facilitate the early detection of amyloidosis. Currently, many patients are diagnosed more than 6 months after symptom onset, yet early diagnosis is the major predictor of survival. Our algorithm aims to shorten the time to diagnosis with efficient sequencing of tests and minimizing uninformative investigations. We also recommend typing and staging of confirmed amyloidosis to guide treatment. By reducing time to diagnosis, our algorithm could lead to earlier and more targeted treatment, ultimately improving prognosis and survival.
淀粉样变性是一种罕见的蛋白质错误折叠疾病,由淀粉样纤维在各种组织和器官中的积累引起。淀粉样变性有不同的亚型,其中轻链(AL)淀粉样变性最为常见。淀粉样变性 notoriously 难以诊断,因为其临床异质性强,没有单一测试可确诊该疾病,且诊断通常需要多个专科医生参与。在此,我们提出一种综合的多学科算法,用于高效诊断淀粉样变性。借鉴多个医学学科的研究成果,我们将临床决策和最佳实践整合到一个全面的算法中,以促进淀粉样变性的早期检测。目前,许多患者在症状出现后6个月以上才被诊断出来,然而早期诊断是生存的主要预测因素。我们的算法旨在通过高效的检测序列安排和尽量减少无意义的检查来缩短诊断时间。我们还建议对确诊的淀粉样变性进行分型和分期,以指导治疗。通过减少诊断时间,我们的算法可以实现更早且更有针对性的治疗,最终改善预后和生存率。