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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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系统性粉症的识别,预后和治疗:一个系统性审查
Morie A Gertz1, Angela Dispenzieri1
1Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, Minnesota.
JAMA
|July 8, 2020
概括
系统性粉症,包括免疫球蛋白轻链 (AL) 和粉素过素 (ATTR) 类型,经常被低诊断. 早期诊断和分期对于有效治疗至关重要,因为治疗改善了生存率和生活质量.
科学领域:
- 医学研究
- 罕见疾病
- 诊断医学
背景情况:
- 系统性粉症,包括免疫球蛋白轻链 (AL) 和粉素粉症 (ATTR),往往是晚诊断,导致严重的器官损伤和不良预后.
- 许多患有AL和ATTR氨基粉症的患者在诊断后的几个月内死亡,这凸显了早期检测的必要性.
研究的目的:
- 建立基于证据的建议,以便更早地诊断和准确地确定全身性粉症的阶段.
- 指导临床医生为患者提供关于这种罕见疾病的预后和治疗选择的咨询.
主要方法:
- 对2000年1月1日至2019年12月31日期间发表的研究进行了全面的文献搜索.
- 关键的搜索词包括"粉样质", "粉样质", "脏综合征", "心力衰竭保存的喷射分数"和"外围神经病变".
- 排除标准包括病例报告,非英语文章和不到10名患者的病例系列;作者独立选择和评估了文献.
主要成果:
- 该审查包括来自1769项最初识别的研究的81篇文章,包括12项随机临床试验,9项病例系列和3项队列研究.
- 详细介绍了AL氨基粉症的发病率和流行率 (大约 12例/百万/年,美国/欧盟3万至4万5千例),ATTR变异性amyloidosis (0.3例/百万/年,5.2例/百万发病率) 和野生型ATTRamyloidosis (155至191例/百万发病率).
- 对于无法解释的性综合征,心力衰竭与保存的喷射分数,肝壮病,外围神经病变和意义不明的单克隆性胃病变的差异性诊断,应考虑 Amyloidosis;通过血液检测可以确定阶段;对于 AL 和 ATTR 性粉症,存在特定的治疗方法.
结论:
- 所有形式的粉样性粉症仍未被确诊,这强调了对临床怀疑的必要性.
- 对于所有类型的amyloidosis可获得批准的治疗方法,这些疗法可以改善存活率,残疾和生活质量.
- 对于影响心脏,脏,肝脏或神经系统的多系统性疾病的患者来说,考虑amyloidosis对于及时诊断和治疗至关重要.
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