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Diagnostic delay in sporadic ATTRv amyloidosis
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Amiloidose hereditária mediada por transtirretina (amiloidose ATTRv) é uma patologia incapacitante e rapidamente progressiva, que se apresenta tipicamente sob a forma de polineuropatia comprimento-dependente com disfunção autonómica. É frequente haver um diagnóstico tardio, particularmente em casos esporádicos. Analisar preditores de atraso de diagnóstico nesta população deverá ser, por isso, uma prioridade.
Métodos: 109 casos aparentemente esporádicos de amiloidose ATTRv seguidos no centro de referência do Hospital de Santa Maria (CHULN-CAML), em Lisboa, foram estudados. O intervalo de tempo entre o início dos sintomas e o diagnóstico, bem como a idade, sexo, município de origem e sintomas iniciais foram obtidos. O atraso de diagnóstico entre as diferentes décadas foi comparado através de um teste de Kruskal-Wallis, e os preditores de atraso de diagnóstico foram avaliados numa primeira fase num modelo univariado e posteriormente numa análise de regressão logística binária para calcular o odds ratio ajustado.
Resultados: A mediana do atraso de diagnóstico foi 1262 dias. Verificou-se uma diferença não significativa no atraso de diagnóstico nas décadas de 80, 90, 2000 e 2010. Ser do sexo feminino e não ter sintomas neurológicos à apresentação foram associados a maior atraso de diagnóstico, ainda que sem significância estatística.
Conclusões: Há um importante atraso de diagnóstico em casos esporádicos de amiloidose ATTRv. Os profissionais de saúde das diferentes especialidades devem estar adequadamente informados sobre as diversas manifestações da doença, salientando a importância da história familiar e dados epidemiológicos.
Background: Hereditary transthyretin-mediated amyloidosis (ATTRv amyloidosis) is a rare progressively incapacitating condition, typically presenting as a length-dependent polyneuropathy with autonomic dysfunction. 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. Methods: 109 apparently sporadic ATTRv amyloidosis patients followed in a reference centre in Hospital de Santa Maria (CHULN-CAML), in Lisbon, were studied. Time from symptom onset to diagnosis, age, sex, municipality of origin and initial symptoms were obtained. The extent of diagnostic delay was compared between different decades with a Kruskal-Wallis test, and predictors of diagnostic delay were evaluated in a univariate model followed by a binary logistic regression analysis to calculate the adjusted odds ratio. Results: The median diagnostic delay from symptom onset was 1262 days. There was a non-significant difference in diagnostic delay between the 80s, 90s, 2000s and 2010s. Being a woman and having no neurological symptoms at onset were associated to a longer diagnostic delay, although not statistically significant. Conclusions: There is an important diagnostic delay in sporadic cases of ATTRv amyloidosis. Awareness should be spread among clinicians of different specialities regarding the various manifestations of this disease, stressing the importance of family history and epidemiological data.
Background: Hereditary transthyretin-mediated amyloidosis (ATTRv amyloidosis) is a rare progressively incapacitating condition, typically presenting as a length-dependent polyneuropathy with autonomic dysfunction. 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. Methods: 109 apparently sporadic ATTRv amyloidosis patients followed in a reference centre in Hospital de Santa Maria (CHULN-CAML), in Lisbon, were studied. Time from symptom onset to diagnosis, age, sex, municipality of origin and initial symptoms were obtained. The extent of diagnostic delay was compared between different decades with a Kruskal-Wallis test, and predictors of diagnostic delay were evaluated in a univariate model followed by a binary logistic regression analysis to calculate the adjusted odds ratio. Results: The median diagnostic delay from symptom onset was 1262 days. There was a non-significant difference in diagnostic delay between the 80s, 90s, 2000s and 2010s. Being a woman and having no neurological symptoms at onset were associated to a longer diagnostic delay, although not statistically significant. Conclusions: There is an important diagnostic delay in sporadic cases of ATTRv amyloidosis. Awareness should be spread among clinicians of different specialities regarding the various manifestations of this disease, stressing the importance of family history and epidemiological data.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2023
Palavras-chave
Amiloidose ATTRv Polineuropatia amiloidótica familiar Casos esporádicos Atraso de diagnóstico Neurologia