全世界有成千上万的患者患有不同类型的甲状腺转维蛋白淀粉样变(ATTR), but it is still an underdiagnosed and underrecognised disease.1,2
What is amyloidosis?
淀粉样变是一种进行性疾病，在不同的患者群体中具有不同的亚型和症状.2-4 当一种叫做淀粉样蛋白的蛋白质在身体的某些部位(如心脏)积聚时，就会出现这种情况, kidneys, liver, nervous system and digestive tract. 2 淀粉样蛋白的积累会对受影响器官的功能和健康产生负面影响.3 There are both hereditary and non-hereditary forms of amyloidosis. 3,4 淀粉样变患者有护理选择，以帮助控制他们的症状, but currently, there is no cure for the disease.5
有一种淀粉样变很难诊断，那就是甲状腺转维蛋白淀粉样变(ATTR)。.2 For patients with ATTR, 他们的肝脏会产生转甲状腺素蛋白，这些蛋白会在身体的其他部位错误折叠和堆积, such as organs and tissues.6 这些错误折叠的蛋白质被称为原纤维，它们越多，就会对身体造成损害.2 ATTR is progressive, systemic and potentially fatal.2
How many types of ATTR are there?
There are two main types of ATTR: cardiomyopathy (CM), which can lead to heart failure, and polyneuropathy (PN).2,7 由于缺乏认识或诊断延误，可能很难发现和治疗全球数千名受ATTR影响的患者, 因此，许多人在接受初步诊断后通常活不过2到5年, depending on the type of ATTR.2,8
ATTR的体征和症状通常被误认为是其他疾病, often resulting in misdiagnoses and treatment delays.9,10 对ATTR的驱动因素的日益了解以及对其在死亡率中所起作用的认识使该疾病成为澳门葡京赌博游戏团队的优先事项.2
Without increased awareness and scientific advancements, ATTR will continue to be misdiagnosed, adversely impacting patients’ health.11
ATTR患者往往面临着一个艰难而复杂的过程，以获得他们需要的帮助. 第一个障碍是得到诊断，这通常是一个漫长的过程.9 卫生保健团队通常将ATTR的症状错误地归因于其他疾病, 在病人得到正确的诊断之前，需要拜访不同类型的医生.9
To increase ATTR patients’ access to care management strategies, 提高对这种情况的认识和了解以及如何发现它是至关重要的. 教育可以帮助增加患者得到及时和准确诊断的可能性，以改善他们的预后和生活质量.1
额外的研究和创新也是推进对atr - cm和atr - pn理解的关键.
At AstraZeneca, 澳门葡京赌博游戏致力于提高对ATTR和其他淀粉样变性疾病的认识，并推进对这些毁灭性疾病的科学和理解. 努力必须集中在深化淀粉样变性的知识，目的是在其轨道上停止条件. We believe that through increased awareness, 准确和早期的诊断，并致力于推进科学, 医疗界将很好地帮助更多的ATTR患者在当代和后代对抗这种毁灭性的疾病.
You may also like
References
1. Coelho T, et al. 反义寡核苷酸AKCEA-TTR-LRx(ION-682884-CS3)在遗传性转甲状腺素介导的淀粉样多发性神经病中的全球3期神经转化研究的设计和基本原理. Neurol Ther. 2021 Jun;10(1):375-389.
2. Gertz M, Adams D, Ando Y, Beirão JM, Bokhari S, Coelho T, et al. 避免误诊:全科医生甲状腺转蛋白淀粉样变怀疑与诊断的专家共识建议[互联网]. BMC family practice. BioMed Central; 2020 [cited 2022Oct11]. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7513485/
3. Amyloidosis [Internet]. NORD (National Organization for Rare Disorders). 2020 [cited 2022Oct11]. Available from: http://rarediseases.org/rare-diseases/amyloidosis/
4. González-Duarte A, et al. 非心脏临床病理特征对甲状腺素淀粉样蛋白多发性神经病患者生存的影响. Neurol Ther. 2020;9(1):135-149. doi:10.1007/s40120-020-00183-7.
5. Amyloidosis facts - leukemia & lymphoma society [Internet]. Leukemia & Lymphoma Society ; 2015 [cited 2022Oct11]. Available from: http://llscorp.stg.lls.org/sites/default/files/2021-05/Amyloidosis_FINAL.pdf
6. Ellahham S.H. [Internet] American College of Cardiology. Emerging Therapeutics for Cardiac Transthyretin Amyloidosis. American College of Cardiology [cited 26 May 2022]. Available from: http://www.acc.org/latest-in-cardiology/articles/2020/08/06/08/12/emerging-therapeutics-for-cardiac-transthyretin-amyloidosis.
7. Rintell D, et al. 转甲状腺素淀粉样心肌病(atr - cm)和多发性神经病变(atr - pn)淀粉样变性的患者和家庭经历:两个焦点组的结果. Orphanet J Rare Dis. 2021;16:7.v
8. Grogan M, Dispenzieri A, Carlsson M, Stewart M, Schumacher J. 转甲状腺蛋白淀粉样心肌病预后调查中转甲状腺蛋白淀粉样心肌病患者的生存分析. Journal of Cardiac Failure. Elsevier; 2017 [cited 2022Oct11]. Available from: http://www.onlinejcf.com/article/S1071-9164(17)30332-9/fulltext#relatedArticles
9. Benson MD, Dasgupta NR, Rao R. 遗传性甲状腺转蛋白淀粉样变(hattr)的诊断和筛查:当前策略和指南[Internet]. Therapeutics and clinical risk management. Dove; 2020 [cited 2022Sep30]. Available from: http://www.ncbi.nlm.nih.gov / pmc /文章/ PMC7434568 / #: ~:文本= % 20诊断% 20世袭% 20 attr % 20,
%2C%20kidney%2C%20or%20gastrointestinal%20tract.
10. Lauppe RE, et al. 瑞典甲状腺转蛋白淀粉样心肌病的全国患病率和特点. Open Heart. 2021;8(2):e001755.
11. Maurer MS, Mathew S. Maurer Mathew S. Maurer, Bokhari S, Sabahat Bokhari Division of Cardiology, Damy T, Thibaud Damy Department of Cardiology, et al. 转甲状腺素型心脏淀粉样变性的怀疑与诊断专家共识建议. Circulation: Heart Failure. 2019 [cited 2022Oct11]. Available from: http://www.ahajournals.org/doi/full/10.1161/CIRCHEARTFAILURE.119.006075
Veeva ID: Z4-45072
Date of preparation: October 2022