Antunes Bernardo, Conceição Isabel, Falcão de Campos Catarina, de Carvalho Mamede
Instituto de Fisiologia, Centro de Estudos Egas Moniz, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.
Departamento de Neurociências e Saúde Mental, ULS de Santa Maria, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.
Neurol Sci. 2025 Feb;46(2):929-934. doi: 10.1007/s10072-024-07793-1. Epub 2024 Oct 10.
Hereditary transthyretin-mediated amyloidosis (ATTRv amyloidosis) is a rare progressively incapacitating condition with a wide range of genotype/phenotype presentations. It is frequently diagnosed late in its course, particularly in sporadic cases.
Analysing predictors of diagnostic delay in this subpopulation should be, therefore, a priority.
109 apparently sporadic ATTRv amyloidosis patients followed in a reference centre in Hospital de Santa Maria (ULS Santa Maria-CAML), in Lisbon, were studied. Time from symptom onset to diagnosis, age, sex, municipality of origin and initial symptoms were obtained. Diagnostic delay was compared between different decades with a Kruskal-Wallis test, and its predictors were evaluated in a univariate model followed by a binary logistic regression analysis to calculate the adjusted odds ratio.
The median diagnostic delay was 1262 days. There was a non-significant difference in diagnostic delay between the 80 s, 90 s, 2000s and 2010s decades. There was a non-significant trend for a longer diagnostic delay in woman and in patients having no neurologic symptoms at onset.
There is an important diagnostic delay in sporadic cases of ATTRv amyloidosis. Awareness should be spread among clinicians regarding the various manifestations of this disease, stressing the importance of family history and epidemiological data.
遗传性转甲状腺素蛋白介导的淀粉样变性病（ATTRv淀粉样变性病）是一种罕见的、逐渐使人丧失能力的疾病，具有广泛的基因型/表型表现。该病常在病程晚期才被诊断出来，尤其是散发病例。
因此，分析该亚群诊断延迟的预测因素应成为首要任务。
对里斯本圣玛丽亚医院（ULS圣玛丽亚 - CAML）参考中心随访的109例明显散发的ATTRv淀粉样变性病患者进行了研究。获取了从症状出现到诊断的时间、年龄、性别、原籍城市和初始症状。采用Kruskal - Wallis检验比较不同年代之间的诊断延迟情况，并在单变量模型中评估其预测因素，随后进行二元逻辑回归分析以计算调整后的优势比。
诊断延迟的中位数为1262天。20世纪80年代、90年代、21世纪初和21世纪10年代之间的诊断延迟没有显著差异。女性和发病时无神经症状的患者诊断延迟较长，但差异不显著。
ATTRv淀粉样变性病散发病例存在重要的诊断延迟。应在临床医生中传播对该疾病各种表现的认识，强调家族史和流行病学数据的重要性。
