Interdisciplinary Center for Health Science, Scuola Superiore Sant'Anna, piazza Martiri della Libertà 33, Pisa 56127, Italy.
Cardiology Division, Fondazione Toscana Gabriele Monasterio, via Moruzzi 1, Pisa 56124, Italy.
Eur J Prev Cardiol. 2024 Aug 22;31(11):1410-1417. doi: 10.1093/eurjpc/zwae093.
Wild-type transthyretin cardiac amyloidosis (ATTRwt-CA) affects older adults and is currently considered as a rare disorder. We investigated for the first time the prevalence of ATTRwt-CA in elderly individuals from the general population.
General practitioners from Pisa, Italy, proposed a screening for ATTRwt-CA to all their patients aged 65-90 years, until 1000 accepted. The following red flags were searched: interventricular septal thickness ≥ 12 mm, any echocardiographic, electrocardiographic or clinical hallmark of CA, or high-sensitivity troponin T ≥ 14 ng/L. Individuals with at least one red flag (n = 346) were asked to undergo the search for a monoclonal protein and bone scintigraphy, and 216 accepted. Four patients received a non-invasive diagnosis of ATTRwt-CA. All complained of dyspnoea on moderate effort. A woman and a man aged 79 and 85 years, respectively, showed an intense cardiac tracer uptake (Grade 3), left ventricular (LV) wall thickening, Grade 2 and 3 diastolic dysfunction, and N-terminal pro-B-type natriuretic peptide (NT-proBNP) > 1000 ng/L. Two other patients (a man aged 74 years and a woman aged 83 years) showed a Grade 2 uptake, an increased LV septal thickness, but preserved diastolic function, and NT-proBNP < 300 ng/L. The prevalence of ATTR-CA in subjects ≥ 65 years was calculated as 0.46% (i.e. 4 out of the 870 subjects completing the screening, namely 654 not meeting the criteria for Step 2 and 216 progressing to Step 2).
Wild-type transthyretin cardiac amyloidosis is uncommon in elderly subjects from the general population, but more frequent than expected for a rare disease.
野生型转甲状腺素蛋白心脏淀粉样变（ATTRwt-CA）影响老年人，目前被认为是一种罕见疾病。我们首次调查了一般人群中老年人中 ATTRwt-CA 的患病率。
意大利比萨的全科医生向所有年龄在 65-90 岁的患者提出了筛查 ATTRwt-CA 的建议，直到有 1000 人接受。寻找以下危险信号：室间隔厚度≥12mm、任何超声心动图、心电图或 CA 的临床特征、或高敏肌钙蛋白 T≥14ng/L。有至少一个危险信号的个体（n=346）被要求进行单克隆蛋白和骨闪烁扫描检查，其中 216 人接受了检查。有 4 名患者被诊断为非侵袭性 ATTRwt-CA。所有患者均主诉中等体力活动时呼吸困难。一名 79 岁的女性和一名 85 岁的男性患者，心脏示踪剂摄取明显（3 级），左心室（LV）壁增厚，2 级和 3 级舒张功能障碍，N 末端 pro-B 型利钠肽（NT-proBNP）>1000ng/L。另外 2 名患者（74 岁男性和 83 岁女性）显示 2 级摄取，LV 间隔增厚，但舒张功能正常，NT-proBNP<300ng/L。≥65 岁患者的 ATTR-CA 患病率计算为 0.46%（即 870 名完成筛查的患者中有 4 名，即 654 名不符合第 2 步标准，216 名进展至第 2 步）。
一般人群中老年人的野生型转甲状腺素蛋白心脏淀粉样变并不常见，但比罕见疾病预期的更常见。
