淀粉样变性

最后审阅: 19 四月 2022
最后更新: 14 十二月 2021

小结

定义

病史和体格检查

关键诊断因素

  • 存在的危险因素
  • 颈静脉扩张
  • 下肢水肿
  • 眶周紫癜
  • 眼睑瘀点
  • 巨舌
更多 关键诊断因素

其他诊断因素

  • 疲劳
  • 体重减轻
  • 劳力性呼吸困难
  • 周围神经病
  • 自主神经病变
  • 跛行
  • 恶心或呕吐
  • 腹部绞痛
  • 交替出现的大便习惯
  • 头晕/直立性低血压
  • 颌下唾液腺增大
  • 肝肿大
  • 肩垫征
  • 弥散性肌无力
  • 腕管综合征
其他诊断因素

危险因素

  • 未定性的单克隆丙种球蛋白病 (MGUS)
  • 炎症性多关节病
  • 慢性感染
  • 炎症性肠病
  • 家族性周期性发热综合征
  • Castleman 病
更多 危险因素

诊断性检查

首要检查

  • 血清免疫固定
  • 尿免疫固定
  • 免疫球蛋白游离轻链测定
  • 全血细胞计数 (FBC)
  • 综合代谢分析
  • 24 小时尿液收集
更多 首要检查

需考虑的检查

  • 组织活检
  • 质谱分析
  • 免疫电子显微镜检查
  • 免疫组织化学检查
  • 基因检测
  • 血清淀粉样蛋白 P (SAP) 闪烁显像扫描
  • 血清肌钙蛋白水平
  • N 末端 B 型利钠肽前体
  • β-2 微球蛋白
  • 心电图 (ECG)
  • 超声心动图(联合组织多普勒和整体纵向应变)
  • 心脏磁共振成像
  • 核素(骨)显像
更多 需考虑的检查

治疗流程

急症处理

免疫球蛋白轻链(AL)淀粉样变性

继发性(AA)淀粉样变性(非家族性)

家族性周期性发热综合征

转甲状腺素蛋白 (TTR) 淀粉样变性

持续性治疗

复发或难治性 AL 淀粉样变性

撰稿人

作者

Morie A. Gertz, MD, MACP
Morie A. Gertz

Seidler Jr. Professor of Medicine

Consultant in Hematology

Chair Emeritus of the Department of Medicine

Mayo Distinguished Clinician

Mayo Clinic College of Medicine

Rochester

MN

利益声明

MAG has received personal fees from Ionis/Akcea, Alnylam, Prothena, Janssen, Annexon, Appellis, Amgen, Medscape, Physicians Education Resource, and Research to Practice; and grants and personal fees from Spectrum. MAG has received personal fees from AbbVie and Celgene for a Data Safety Monitoring board, and personal fees from Sanofi for workforce training. MAG has received speaker fees from Teva, Johnson & Johnson, Medscape, and DAVA Oncology; and advisory board fees from Pharmacyclics and Procalara. MAG has participated in the development of educational materials for the i3Health Educational Program development. MAG has received royalties from Springer Publishing. MAG has received grant funding from the Amyloidosis Foundation, International Waldenstrom's Macroglobulinemia Foundation, and National Cancer Institute (SPORE MM SPORE 5P50 CA186781-04). MAG has stock options in Aurora Bio. MAG is an author of references cited in this topic.

同行评议者

Donna Reece, MD

Associate Professor of Medicine

Director

Program for Multiple Myeloma and Related Diseases

Princess Margaret Hospital

Toronto

Ontario

Canada

利益声明

DR has been reimbursed by Millennium Pharmaceuticals, Inc and Johnson & Johnson, the manufacturers of bortezomib, for attending several conferences, for speaking at educational meetings, and for consulting work. She has also been reimbursed by Celgene, the manufacturer of lenalidomide and thalidomide, for attending several symposia and serving as a speaker.

Jeffrey Zonder, MD

Assistant Professor of Medicine and Oncology

Division of Hematology/Oncology

Wayne State University School of Medicine

Barbara Ann Karmanos Cancer Institute

Detroit

MI

利益声明

JZ declares that he has no competing interests.

  • 淀粉样变性 images
  • 鉴别诊断

    • 肥厚型心肌病 (Hypertrophic cardiomyopathy, HCM)
    • 膜性肾小球肾病
    • 意义不明的单克隆丙种球蛋白病 (MGUS) 相关神经病
    更多 鉴别诊断
  • 指南

    • 关于心脏淀粉样变性多模态影像学检查的专家共识建议
    • 心脏淀粉样变性的诊断和治疗:ESC 心肌及心包疾病工作小组的立场声明
    更多 指南
  • padlock-lockedLog in or subscribe to access all of BMJ Best Practice

内容使用需遵循免责声明