Real world outcomes of Fabry disease in Italian excellence centers: the ground study - PubMed
4 hours ago
- #Fabry disease
- #Treatment outcomes
- #Real-world study
- The GROUND study was a retrospective, multicenter analysis of 199 adult Fabry disease patients (73 male, 126 female) with at least 3 years of follow-up across 8 Italian centers.
- Key findings include a mean delay of 5.03 years from first symptom to diagnosis, with initial manifestations often being chronic pain, angiokeratomas, acroparesthesia, abdominal pain, or left ventricular hypertrophy.
- Despite 82% of patients receiving specific Fabry disease treatments and a median delay of only 0.64 years from diagnosis to treatment start, 31.7% experienced severe or fatal events, primarily cardiac, cerebral, or renal in nature.
- Disease progression was monitored using the FASTEX index, which identified 31.1% of patients as unstable, and eGFR slopes indicated ongoing renal decline, particularly in classic male patients.
- The study concludes that even with prompt treatment, severe clinical events affect about 30% of patients, underscoring the need for better outcome assessment tools and new therapeutic options.