Óbitos por polineuropatia amiloidótica familiar no Brasil - série temporal

• Autor(a) principal: Lima, Willian Mororó
• Data de Publicação: 2023
• Tipo de documento: Trabalho de conclusão de curso
• Idioma: por
• Título da fonte: Repositório Institucional da UFS
• Texto Completo: https://ri.ufs.br/jspui/handle/riufs/18639
• topic: Doenças hereditárias; Registro civil; Epidemiologia; Polineuropatia amiloidótica familiar; Óbitos; Perfil epidemiológico; Familial amyloid polyneuropathy; Deaths; Epidemiological profile

Familial amyloid polyneuropathy (FAP) is a rare genetic disease of autosomal dominant inheritance that was first described in 1952 in Portugal. Brazil is an endemic territory for this disease, however, without data on prevalence, incidence and mortality. However, it is known that in our midst, penetrance is high, which implies the presence of manifest disease in more than 80% of individuals who have some mutation. The difficulty in making the diagnosis in a timely manner is a problem that reduces the life expectancy of the population, which revolves around 10 years after the onset of symptoms, which characterizes this condition as an important cause of death. The objectives are to describe the notifications of deaths by FAP in Brazil, between the years 2010 and 2020, according to the variables gender, age group, color/race and region, as well as to analyze the temporal trend of the incidence of deaths and the impact of underreporting in the real knowledge of the FAP situation in our environment. This is an ecological study, of the time series type, based on secondary data obtained from the DATASUS platform (TABWIN), in the CID 10 mortality monitoring panel, using CID E85.1 referring to FAP. Data tabulation was performed using Microsoft Excel 2019 and statistical analysis by calculating the absolute frequency, percentage, mean, median, standard deviation and incidences of specific causes of death were modeled using a generalized linear model (GML) with distribution of Poissons distribution estimated by the quasi-likelihood method. The absence of different angular coefficients, that is, that there are no points of change in the slope of the curve of incidences of chronic causes of death, was verified using the (pseudo) Score test. It was only Percentage Change (APC) to assess trends in incidences. Statistical analysis revealed that deaths from FAP in Brazil between 2010 and 2020 occurred mostly in the Southeast region, in white people, with an average age of 56 years and male gender, FAP being responsible for 40 deaths, with an average of 4 deaths a year, corresponding to 3% of all deaths from amyloidosis in Brazil. The temporal analysis of the incidence of death revealed that there was stagnation, with no trends in the period. The findings were, therefore, similar to other studies carried out in Brazil, and also in other regions with a high prevalence of the disease, with an average number of deaths higher than that found in non-endemic countries. The stagnation found can be explained by underreporting, since, all over the world, especially in other endemic countries, the disease is characterized as a disease on the rise. It became evident that the regional and racial inequalities present in our territory can be a determining factor for underreporting and underdiagnosis, which limit knowledge of the real situation of the disease. And, in addition, that in our territory, the life expectancy of people with FAP can be reduced by up to 20 years, compared to the general population, as a result of the delay in diagnosis and in the institution of therapeutic measures. Therefore, it is imperative that new studies be conducted so that continuing education policies are instituted for physicians and other health professionals, with the aim of reducing the time to confirm the diagnosis, underreporting and, consequently, improving the life expectancy of these people