Expert Opinion on the Conceptual, Clinical, and Therapeutic Aspects of Fabry Nephropathy: A Nephrologists' Perspective.

BACKGROUND: Progressive nephropathy (Fabry nephropathy), as observed in both the early-onset and later-onset types of Fabry disease and in as many as 50% of males and 20% of females, represents a major driver of overall disease burden in this population. Nonetheless, recognizing and diagnosing Fabry nephropathy remains clinically demanding for nephrologists given its pivotal role in altering disease progression and improving patients' quality of life. Therapeutics presents additional complexity as evidence-based criteria for treatment and prognostic algorithms remain limited.

SUMMARY: Against this background, this expert opinion aims to address the current knowledge on conceptual, clinical, and therapeutic aspects of Fabry nephropathy from a nephrologist's perspective and to provide a guidance document for the best practice in the management and monitoring of the disease.

KEY MESSAGES: The participating experts considered the indispensable role of heightened disease awareness among nephrologists, the maintenance of a high diagnostic index in symptomatic individuals, and the importance of systematic screening of at-risk populations to enable prompt identification of Fabry nephropathy. This is particularly important in the current availability of enzymatic and genetic screening tests and the specific disease-modifying treatments capable of decelerating kidney function deterioration when initiated at an early disease stage. Implementation of a multidisciplinary approach with an experienced team of clinicians, and continued monitoring and assessment of clinical status are considered critical to optimal patient care, as well as the timely initiation of ERT in conjunction with appropriately selected adjunctive treatments within a care plan individualized to the patient's clinical signs and symptoms.