Análise do perfil epidemiológico, clínico e genético da amiloidose por transtirretina no interior de Pernambuco

Abstract

Transthyretin amyloidosis (ATTR) is a systemic disease caused by extracellular deposition of amyloid fibrils derived from the transthyretin protein, occurring in hereditary (ATTRv) and wild-type (ATTRwt) forms. Despite recent therapeutic advances, ATTR remains underdiagnosed, especially in regions with limited epidemiological data, such as the inland areas of Northeastern Brazil. This study aimed to characterize the epidemiological, clinical, and genetic profile of patients with ATTR treated at the rare diseases outpatient clinic of UNIVASF, located in Petrolina, Pernambuco, Brazil. This was a retrospective, observational, cross-sectional analytical study including 207 patients evaluated between January 2022 and August 2025. Patients were stratified into TTR-positive (n = 85) and non-TTR (n = 122) groups. Pearson’s chi-square and Mann–Whitney tests were applied, considering statistical significance at p < 0.05. The mean age was 54.4 ± 23.2 years, with a slight female predominance (51.2%). The Val142Ile mutation was identified in 97.7% of TTRpositive cases. The predominant phenotypes were mixed (50%), cardiac (25%), and neurological (25%). Significant associations were observed between TTR positivity and age (p = 0.04), sex, mutation type, and clinical phenotype (p < 0.05). Only 14.11% of patients were receiving tafamidis therapy. A possible regional cluster was identified in the municipalities of Cabrobó, Salgueiro, and Petrolina. The predominance of the Val142Ile mutation and the identification of possible geographic aggregation reinforce the need for active screening strategies and strengthening of specialized regional centers for the diagnosis and management of ATTR in inland Northeastern Brazil.