PrEFiNe Plan: Strategic plan for Fabry diseases in Nephrology

Area of Science:

• Nephrology
• Rare Diseases
• Genetic Disorders

Background:

• Renal failure is a primary cause of mortality in Fabry disease (FD) patients.
• Delayed diagnosis and misdiagnosis are common in FD, often leading to irreversible organ damage.
• Early recognition of FD is crucial for preventing severe complications and premature death.

Purpose of the Study:

• The PrEFiNE project aims to enhance knowledge and diagnosis of Fabry disease.
• This initiative seeks to improve the early identification of FD to mitigate its severe consequences.

Main Methods:

• A multi-faceted approach including surveys of nephrologists' FD knowledge and prevalence studies in dialysis, transplant, and predialysis CKD patients.
• Pharmacoeconomic analysis of FD burden and online/on-site medical education activities.
• Dissemination through publications, media, and a final compilation book with recommendations.

Main Results:

• The PrEFiNE project will assess an action plan to improve FD knowledge and facilitate early diagnosis.
• The project will identify and address unmet needs in FD management and patient care.

Conclusions:

• The PrEFiNE project is designed to improve the early recognition of Fabry disease.
• Recommendations will be developed based on project findings to address undetected needs in FD care.