Spanish multidisciplinary clinical practice guideline on Anderson-Fabry disease in adults: A live guideline

Abstract

The great variability in the clinical presentation of Fabry Disease (FD), the difficulties for its diagnosis, and the availability of several alternatives for its treatment, are a great challenge for the professionals who treat patients with FD, that justify the elaboration of an evidence based clinical practice guideline (CPG) to help decision-making in the management of Fabry patients. METHODS: We applied both the guidances from NICE guideline development methods and GUIASALUD (Spanish NHS Guideline Methods). We incorporated GRADE methodology (Grading of Recommendations Assessment) for the evaluation of quality of scientific evidence and the development and weighing of recommendations. For the final elaboration of these recommendations, a structured consensus process was carried out with a panel of 9 experts proposed by different scientific societies, research centers and patients' associations in two rounds using the Delphi-RAND method. Finally, the proposed guideline was reviewed by stakeholders (pharma industries, scientific societies and patient associations). The guideline maintains a living process for annual updating. RESULTS: thirty-two PICO clinical questions were considered, gathered in 9 different steps of the process of care. Tables were prepared for the synthesis and evaluation of the quality of the evidence for each of the questions. Regarding the quality of the evidence, balance between benefits and risks, values and preferences of patients, equity and use of resources were considered. The FD-Guideline contains 92 specific recommendations for the management of FD including chapters on when to suspect the disease or how to support social and non-medical outcomes for patients and families. CONCLUSIONS: An evidence based CPG about Fabry disease is now available for both health care workers involved in this disease and patients.