Preliminary results from the national F-CHECK study, unveiled at the European Society of Cardiology Congress (ESC 2025), suggest that Fabry disease may be more common among Portuguese patients with unexplained heart conditions than previously thought.
The study screened patients with idiopathic hypertrophic cardiomyopathy and left ventricular hypertrophy, revealing that many cases remain undetected. In an interview with News Farma, Dr. Elisabete Martins, coordinator of the Heart Failure Study Group (GEIC – Grupo de Estudos de Insuficiência Cardíaca), of the Portuguese Society of Cardiology, reported that 11 cases were identified among 283 patients, a prevalence of 3.9%.
Experts stress that early diagnosis is crucial, as timely treatment can slow disease progression and prevent severe cardiac complications. These findings underscore the urgency of integrating systematic Fabry screening into cardiology practice to improve outcomes and reduce underdiagnosis in Portugal.
