Thousands of patients have varying types of transthyretin amyloidosis (ATTR) around the world, 但它仍然是一种未被充分诊断和认识的疾病.1,2
什么是淀粉样变性?
Amyloidosis is a progressive disease with varying subtypes and symptoms across patient groups.2-4 The condition arises when a protein called amyloid builds up in certain body parts such as the heart, kidneys, liver, 神经系统和消化道. 2 The buildup of the amyloid protein then negatively impacts the function and health of the affected organs.3 淀粉样变有遗传性和非遗传性两种形式. 3,4 Patients with amyloidosis have care options to help manage their symptoms, 但目前, 这种病无药可治.5
One type of amyloidosis that can be challenging to diagnose is transthyretin amyloidosis (ATTR).2 对于ATTR患者, their livers produce transthyretin proteins that misfold and build up in other parts of the body, 比如器官和组织.6 These misfolded proteins, called fibrils, cause damage to the body the more they accumulate.2 ATTR是进行性、全身性和潜在致命性的.2
ATTR有多少种类型?
ATTR主要有两种类型:心肌病, 哪一种会导致心力衰竭, 和多发性神经病(PN).2,7 It can be hard to find and treat the thousands of patients impacted by ATTR across the globe due to lack of awareness or delayed diagnosis, so many typically do not live for more than two to five years after they receive their initial diagnosis, 取决于ATTR的类型.2,8
Signs and symptoms of ATTR are commonly misattributed to other conditions, 常常导致误诊和治疗延误.9,10 Growing understanding of the drivers of ATTR and recognition of the role it plays in mortality has made the disease a priority for our team.2
没有意识的提高和科学的进步, ATTR将继续被误诊, 对患者健康产生不利影响.11
Patients with ATTR often face a difficult and complex journey towards getting the help they need. The first hurdle is getting a diagnosis, which is often a lengthy process.9 Health care teams commonly misattribute the symptoms of ATTR to other conditions, requiring visits to different types of physicians before patients receive a correct diagnosis.9
提高ATTR患者对护理管理策略的可及性, greater awareness and knowledge of the condition and how to detect it is vital. Education can help increase the likelihood people with the disease receive a timely and accurate diagnosis to improve their prognosis and quality of life.1
Additional research and innovation are also key to advancing the understanding of both ATTR-CM and ATTR-PN.
在澳门在线赌城娱乐, we’re committed to raising awareness of ATTR and other amyloidosis conditions as well as advancing the science and understanding of these devastating diseases. Efforts must be focused on deepening knowledge of amyloidosis with the aim of stopping the condition in its tracks. 澳门第一赌城在线娱乐相信，通过提高意识, accurate and earlier diagnoses and dedication to advancing the science, the medical community will be well positioned to help more people with ATTR in current and future generations combat this devastating disease.
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参考文献
1. Coelho T，等. Design and Rationale of the Global Phase 3 NEURO-TTRansform Study of Antisense Oligonucleotide AKCEA-TTR-LRx(ION-682884-CS3) in Hereditary Transthyretin-Mediated Amyloid Polyneuropathy. 神经其他计划. 2021年6月,10 (1):375 - 389.
2. Gertz M, Adams D, Ando Y, beir
3. 淀粉样变(互联网). 全国罕见疾病组织. 2020[引用日期:2022Oct11]. 可从:http://rarediseases获得.org/rare-diseases/amyloidosis/
4. González-Duarte A，等. Impact of non-cardiac clinicopathologic characteristics on survival in transthyretin amyloid polyneuropathy. 神经其他计划. 2020;9(1):135-149. doi:10.1007/s40120-020-00183-7.
5. 淀粉样变事实-白血病 & lymphoma society [Internet]. 白血病 & Lymphoma Society ; 2015 [cited 2022Oct11]. 可从:http://llscorp获得.stg.lls.org/sites/default/files/2021-05/Amyloidosis_FINAL.pdf
6. Ellahham年代.H. 美国心脏病学会. 心脏转甲状腺素淀粉样变性的新疗法. 美国心脏病学会 [引自2022年5月26日]. 可从:http://www获得.acc.org/latest-in-cardiology/articles/2020/08/06/08/12/emerging-therapeutics-for-cardiac-transthyretin-amyloidosis.
7. Rintell D等. Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups. 罕见病孤儿. 2021;16:7.v
8. 刘建军，张建军，张建军，张建军. A survival analysis of subjects with transthyretin amyloid cardiomyopathy from the transthyretin amyloidosis outcomes survey [Internet]. 心力衰竭杂志. Elsevier; 2017 [cited 2022Oct11]. 可从:http://www获得.onlinejcf.com/article/s1071 - 9164(17) 30332 - 9 /全文# related文章
9. Benson MD, Dasgupta NR, Rao R. Diagnosis and screening of patients with hereditary transthyretin amyloidosis (hattr): Current strategies and guidelines [Internet]. 治疗和临床风险管理. Dove; 2020 [cited 2022Sep30]. 可从:http://www获得.ncbi.nlm.nih.gov/pmc/articles/PMC7434568/#:~:text=The%20diagnosis%20of%20hereditary%20ATTR,
% 2 c % 20肾脏% 2 c % 20或% 20肠胃% 20道.
10. Lauppe RE等. Nationwide prevalence and characteristics of transthyretin amyloid cardiomyopathy in Sweden. 开放的心. 2021;8(2):e001755.
11. Maurer MS, Mathew S. 毛雷尔·马修·S. Maurer, Bokhari年代, Sabahat Bokhari心脏病科, Damy T, Thibaud Damy心脏病科, et al. Expert consensus recommendations for the suspicion and diagnosis of transthyretin cardiac amyloidosis [Internet]. 循环:心脏衰竭. 2019年[引用日期:2022Oct11]. 可从:http://www获得.ahajournals.org/doi/full/10.1161 / CIRCHEARTFAILURE.119.006075
Veeva ID: Z4-45072
筹备日期:2022年10月