Tingen H S A, Berends M, Tubben A, van der Meer P, Slart R H J A, Bijzet J, van der Zwaag P A, Kimmich C, Knackstedt C, Muntinghe F L H, Houwerzijl E J, Hazenberg B P C, Nienhuis H L A
Department of Nuclear Medicine and Molecular Imaging, Groningen Amyloidosis Centre of Expertise, Groningen University, University Medical Centre Groningen, Groningen, The Netherlands.
Department of Internal Medicine, Groningen Amyloidosis Centre of Expertise, Groningen University, University Medical Centre Groningen, Groningen, The Netherlands.
Eur J Nucl Med Mol Imaging. 2025 May 23. doi: 10.1007/s00259-025-07328-6.
To determine whether TTRv carriers with Perugini grade 1 cardiac radiotracer uptake on [Tc]Tc- hydroxydiphosphonate bone scintigraphy have or develop ATTR-CM.
This retrospective observational study was conducted at the Groningen Amyloidosis Centre of Expertise between April 2012 and June 2023. TTRv carriers with Perugini grade 1 uptake on bone scintigraphy were followed until to June 2024. Data on symptoms, biomarkers, imaging, and biopsies were collected. A descriptive analysis was performed to evaluate whether carriers met the diagnostic criteria for ATTR-CM or 'probable ATTR-CM' at baseline and follow-up.
Out of 178 TTRv carriers in screening, 12 carriers had Perugini grade 1 cardiac radiotracer uptake on bone scintigraphy. At baseline, 2 carriers met the diagnostic criteria for ATTR-CM and 3 carriers met the criteria for probable ATTR-CM. Of the 7 carriers without (probable) ATTR-CM at baseline, 3 carriers were diagnosed with ATTR-CM during follow-up and 1 carrier developed probable ATTR-CM during follow-up. Three carriers showed signs of cardiomyopathy during follow-up, but did not meet the criteria for (probable) ATTR-CM. One of these cases may have been false-positive due to hydroxychloroquine use.
Our findings suggest that Perugini grade 1 cardiac radiotracer uptake is an early marker of ATTR-CM in TTRv carriers, potentially enabling earlier diagnosis and intervention.
确定在[锝（Tc）]Tc-羟基二膦酸盐骨闪烁显像中表现为佩鲁吉尼1级心脏放射性示踪剂摄取的转甲状腺素蛋白变异体（TTRv）携带者是否患有或会发展为转甲状腺素蛋白淀粉样变心肌病（ATTR-CM）。
这项回顾性观察研究于2012年4月至2023年6月在格罗宁根淀粉样变性专业中心进行。对骨闪烁显像中表现为佩鲁吉尼1级摄取的TTRv携带者进行随访直至2024年6月。收集症状、生物标志物、影像学和活检数据。进行描述性分析以评估携带者在基线和随访时是否符合ATTR-CM或“可能的ATTR-CM”的诊断标准。
在178名进行筛查的TTRv携带者中，有12名携带者在骨闪烁显像中表现为佩鲁吉尼1级心脏放射性示踪剂摄取。基线时，2名携带者符合ATTR-CM的诊断标准，3名携带者符合可能的ATTR-CM的标准。在基线时无（可能的）ATTR-CM的7名携带者中，3名携带者在随访期间被诊断为ATTR-CM，1名携带者在随访期间发展为可能的ATTR-CM。3名携带者在随访期间出现心肌病迹象，但不符合（可能的）ATTR-CM的标准。其中1例可能因使用羟氯喹而出现假阳性。
我们的研究结果表明，佩鲁吉尼1级心脏放射性示踪剂摄取是TTRv携带者中ATTR-CM的早期标志物，有可能实现更早的诊断和干预。
