Falcão de Campos Catarina, Gromicho Marta, Uysal Hilmi, Grosskreutz Julian, Kuzma-Kozakiewicz Magdalena, Oliveira Santos Miguel, Pinto Susana, Petri Susanne, Swash Michael, de Carvalho Mamede
Instituto de Fisiologia, Instituto de Medicina Molecular, Centro de Estudos Egas Moniz, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.
Department of Neurosciences and Mental Health, Centro Hospitalar Universitário de Lisboa-Norte, Lisbon, Portugal.
Front Neurol. 2023 Jan 17;13:1064619. doi: 10.3389/fneur.2022.1064619. eCollection 2022.
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease with a median survival of 2-5 years. An early diagnosis is essential for providing ALS patients the finest management possible. Studies from different countries report a similar median diagnostic delay of around 12 months, which is still far from desirable. We analyzed the diagnostic pathway in different countries in order to identify the major challenges.
We studied a cohort of 1,405 ALS patients from five different centers, in four different countries (Turkey, Germany, Poland, and Portugal), which collaborated in a common database. Demographic, disease and sociocultural factors were collected. Time from first symptom onset to first medical evaluation and to diagnosis, the specialist assessment and investigations requested were analyzed. Factors contributing to diagnostic delay were evaluated by multivariate linear regression.
The median diagnostic delay from first symptom onset was 11 months and was similar between centers. Major differences were seen in the time from symptom onset to first medical evaluation. An earlier first medical evaluation was associated with a longer time to diagnosis, highlighting that ALS diagnosis is not straightforward in the early stages of the disease. The odds for ALS diagnosis were superior when evaluated by a neurologist and increased over time. Electromyography was decisive in establishing the diagnosis.
We suggest that a specific diagnostic test for ALS-a specific biomarker-will be needed to achieve early diagnosis. Early referral to a neurologist and to electromyography is important for early ALS diagnosis.
肌萎缩侧索硬化症（ALS）是一种快速进展的神经退行性疾病，中位生存期为2至5年。早期诊断对于为ALS患者提供最佳治疗至关重要。来自不同国家的研究报告的中位诊断延迟相似，约为12个月，但这仍远不尽如人意。我们分析了不同国家的诊断途径，以确定主要挑战。
我们研究了来自四个不同国家（土耳其、德国、波兰和葡萄牙）五个不同中心的1405例ALS患者队列，这些中心共同参与了一个数据库。收集了人口统计学、疾病和社会文化因素。分析了从首次症状出现到首次医学评估和诊断的时间、专家评估以及所要求的检查。通过多元线性回归评估导致诊断延迟的因素。
从首次症状出现到诊断的中位延迟为11个月，各中心之间相似。在从症状出现到首次医学评估的时间上存在重大差异。较早的首次医学评估与较长的诊断时间相关，这突出表明在疾病早期ALS诊断并非易事。由神经科医生进行评估时，ALS诊断的几率更高，且随时间增加。肌电图检查对确诊起决定性作用。
我们建议需要一种针对ALS的特定诊断测试——一种特定的生物标志物——以实现早期诊断。早期转诊至神经科医生并进行肌电图检查对早期ALS诊断很重要。
