Ikeda Shu-Ichi
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine.
Rinsho Shinkeigaku. 2011 Nov;51(11):1143-5. doi: 10.5692/clinicalneurol.51.1143.
Systemic amyloidosis that includes familial transthyretin (TTR)-related amyloid polyneuropathy (FAP) and primary systemic immunoglobulin light chain (AL)-derived amyloidosis was long considered to be an incurable disease, but effective therapeutic approaches developed during 20 years ago: liver transplantation for FAP and high dose melphalan with autologous peripheral blood stem cell transplantation (Auto-PBSCT). Systemic amyloidosis is characterized by the presence of an amyloid precursor protein in serum and both treatments can cease the production of amyloid precursor proteins in serum. After transplantation the progression of FAP symptoms certainly stopped, and the patients who were in an early stage of the disease and underwent successful operation showed considerable improvement in their quality of life. Similar clinical recovery was seen in primary systemic AL amyloidosis patients with polyneuropathy after high dose melphalan with auto-PBSCT. Histopathological regression of amyloid deposits on aspirated abdominal fat tissues and/or gastroduodenal mucosa was demonstrated in the patients with long post-treatment courses, indicating that an amyloid precursor protein is dynamically turned over in the lesions with amyloid deposits.
全身性淀粉样变性包括家族性转甲状腺素蛋白（TTR）相关淀粉样多神经病（FAP）和原发性全身性免疫球蛋白轻链（AL）衍生的淀粉样变性，长期以来一直被认为是一种无法治愈的疾病，但20多年前开发出了有效的治疗方法：FAP的肝移植以及高剂量美法仑联合自体外周血干细胞移植（Auto-PBSCT）。全身性淀粉样变性的特征是血清中存在淀粉样前体蛋白，且这两种治疗方法均可停止血清中淀粉样前体蛋白的产生。移植后，FAP症状的进展肯定停止了，处于疾病早期且手术成功的患者生活质量有了显著改善。高剂量美法仑联合Auto-PBSCT治疗后，原发性全身性AL淀粉样变性合并多神经病的患者也出现了类似的临床恢复情况。在治疗后病程较长的患者中，经抽吸的腹部脂肪组织和/或胃十二指肠黏膜上的淀粉样沉积物出现了组织病理学消退，这表明淀粉样前体蛋白在有淀粉样沉积物的病变中会动态更新。
