The results of the multicenter national study F-CHECK have been published in the journal Biomedicines, highlighting the importance of screening for Fabry disease (FD) in specific cardiology patients: https://www.mdpi.com/2227-9059/13/10/2530.
The research focused on screening patients diagnosed with unexplained cardiomyopathies, including idiopathic hypertrophic cardiomyopathy (HCM), left ventricular hypertrophy, dilated-phase HCM, and dilated cardiomyopathy with late gadolinium enhancement in the inferolateral segment.
The study found a 3.4% prevalence of genetically confirmed FD among this patient group.
FD is a rare genetic condition that can be misdiagnosed as other heart conditions. The study also noted that patients with FD were significantly more likely to experience different symptoms, such as acroparesthesias (pain in hands and feet), angiokeratomas (skin lesions), and a history of arrhythmic events or cerebrovascular disease.
The findings underscore the need for targeted screening in patients with unexplained cardiomyopathies to ensure proper diagnosis and management of FD.
