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Título

Evaluation of Quality of Life in Patients with Familial Amyloid Polyneuropathy

Resumo

INTRODUCTION: Amyloidosis are a group of diseases caused by deposition of amyloid fibrils. A subgroup of those pathologies is associated with a gene mutation in a protein called Transthyretin, which may cause a series of affections, including a neurological manifestation, called Familial Amyloid Polyneuropathy (FAP). FAP is a rare, progressive and uncurable disease, capable of causing great impact in patients’ quality of life. OBJECTIVES: To evaluate quality of life in patients with Familial Amyloid Polyneuropathy; to characterize the sample regarding biological and sociodemographic variables. METHODS: This is an observational, transversal, analytical and descriptive study, based on primary data from patients with confirmed diagnosis of FAP, recruited by convenience at an ambulatory in Salvador, Bahia, and collected in the year of 2021. There were collected sociodemographic and biological variables and six scores generated by the Norfolk QOL-DN questionnaire. Quantitative data were analysed and expressed in means/medians, according to their distribution, as well as standard deviations/interquartile range; and qualitative data were analysed and expressed in relative and absolute values. RESULTS: In the period between July/2021 and December/2021, there were collected data from 16 patients, with a mean age of 56,19 years (± 15,94 years) and 9 (56,3%) of them were male. From those, 6 (37,5%) have not declared their race; 5 (31,3%) were brown; 3 (18,8%) were black and 2 (12,5%) were white. The autonomic neuropathy score, large-fiber neuropathy score and total affected quality of life score had means, respectively, of 4,19 (± 4,23), 30 (± 28,4) and 64,81 (± 61,32). The sample was divided in two age groups, by the mean age (56,19), older or youger, and it was applied Student’s t-test, which has demonstrated that the previously cited scores has a similar mean - total affected quality of life score (t(11,2) = 0,651; p = 0,523); autonomic neuropathy score (t(10,4) = 0,296; p = 0,773); large-fiber neuropathy score (t(14) = 0,344; p = 0,736). The small-fiber neuropathy score, the symptoms score and the daily-life activities score had medians, respectively, of 3 (interquartile range: 0;8,75), 10 (interquartile range: 4,25;22), 2 (interquartile range: 0;15,25). CONCLUSION: In our sample, all patients had quality of life prejudice. Despite of being a chronic and progressive disease, it was not found any difference at quality of life decrease with age progression.

Palavras Chave

Familial Amyloid Polyneuropathy; Quality of Life; Norfolk.

Área

Neuropatias Periféricas