Nativi-Nicolau Jose, Siu Alfonso, Dispenzieri Angela, Maurer Mathew S, Rapezzi Claudio, Kristen Arnt V, Garcia-Pavia Pablo, LoRusso Samantha, Waddington-Cruz Márcia, Lairez Olivier, Witteles Ronald, Chapman Doug, Amass Leslie, Grogan Martha
University of Utah Health & Huntsman Cancer Institute, Salt Lake City, Utah, USA.
Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA.
JACC CardioOncol. 2021 Oct 19;3(4):537-546. doi: 10.1016/j.jaccao.2021.08.009. eCollection 2021 Oct.
Transthyretin amyloid cardiomyopathy results from the accumulation of wild-type (ATTRwt) or variant (ATTRv) transthyretin amyloid fibrils in the myocardium. THAOS (Transthyretin Amyloidosis Outcomes Survey) is a global, longitudinal, observational survey of patients with ATTRv and ATTRwt amyloidosis and asymptomatic patients with transthyretin mutations.
This study explored temporal trends in ATTRwt amyloidosis diagnoses using data from THAOS.
Using THAOS data from December 2007 to January 2020, the following comparisons were made according to year: ATTRwt amyloidosis diagnoses in the United States versus rest of the world, ATTRwt versus ATTRv amyloidosis with cardiac-associated mutations diagnoses, and ATTRwt amyloidosis diagnoses by tissue biopsy versus bone scintigraphy.
There were 1,069 patients with ATTRwt amyloidosis and 525 with ATTRv amyloidosis with cardiac mutations enrolled in THAOS. The median time from symptom onset to ATTRwt amyloidosis diagnosis did not change over the past 5 years (>60 months from 2015-2019). ATTRwt amyloidosis diagnoses increased from 2 in 2005 to >100 per year from 2016, with a more pronounced increase in the United States compared with the rest of the world. Diagnoses of ATTRwt amyloidosis by tissue biopsy increased yearly and peaked in 2014 before declining, whereas diagnoses by bone scintigraphy increased markedly since 2011. ATTRv amyloidosis with cardiac mutation diagnoses increased from 3 in 2005 to 37 in 2011, then plateaued. The proportion of patients with ATTRwt amyloidosis diagnosed with New York Heart Association functional class III/IV heart failure decreased from 2012 (46.4%) to 2019 (16.0%).
In the past decade, ATTRwt amyloidosis diagnoses increased worldwide. Despite the growing utilization of bone scintigraphy, patients are diagnosed several years after symptom onset. (Transthyretin Amyloidosis Outcomes Survey [THAOS]; NCT00628745).
转甲状腺素蛋白淀粉样心肌病是由野生型（ATTRwt）或变异型（ATTRv）转甲状腺素蛋白淀粉样纤维在心肌中积累所致。转甲状腺素蛋白淀粉样变性病结局调查（THAOS）是一项针对ATTRv和ATTRwt淀粉样变性病患者以及无症状转甲状腺素蛋白突变患者的全球纵向观察性调查。
本研究利用THAOS数据探讨ATTRwt淀粉样变性病诊断的时间趋势。
使用2007年12月至2020年1月的THAOS数据，按年份进行以下比较：美国与世界其他地区的ATTRwt淀粉样变性病诊断、有心脏相关突变的ATTRwt与ATTRv淀粉样变性病诊断，以及通过组织活检与骨闪烁显像进行的ATTRwt淀粉样变性病诊断。
THAOS纳入了1069例ATTRwt淀粉样变性病患者和525例有心脏突变的ATTRv淀粉样变性病患者。在过去5年中，从症状出现到ATTRwt淀粉样变性病诊断的中位时间没有变化（2015 - 2019年超过60个月）。ATTRwt淀粉样变性病的诊断从2005年的2例增加到2016年的每年超过100例，美国的增长比世界其他地区更为明显。通过组织活检诊断的ATTRwt淀粉样变性病逐年增加，并在2014年达到峰值后下降，而通过骨闪烁显像诊断的自2011年以来显著增加。有心脏突变的ATTRv淀粉样变性病诊断从2005年的3例增加到2011年的37例，然后趋于平稳。被诊断为纽约心脏协会心功能III/IV级心力衰竭的ATTRwt淀粉样变性病患者比例从2012年的46.4%降至2019年的16.0%。
在过去十年中，全球范围内ATTRwt淀粉样变性病的诊断有所增加。尽管骨闪烁显像的使用越来越多，但患者在症状出现数年后才被诊断出来。（转甲状腺素蛋白淀粉样变性病结局调查[THAOS]；NCT00628745）
