Search

Objective: This scoping review aims to comprehend the nature and the extent of the available evidence regarding tools to assess patients with Fabry Disease (FD). Introduction: Due to its heterogeneous presentation and rare frequency in the population, FD is significantly misdiagnosed. In this context, understanding the current knowledge of tools to assess FD patients is crucial to ensure appropriate screening, early diagnosis, accurate classification, and timely treatment. A preliminary search of PubMed and the Cochrane Database of Systematic Reviews was conducted, and no published or underway systematic reviews or scoping reviews on our research question were identified. Inclusion criteria: We will include human-based research articles based on qualitative or quantitative methods, published in peer-reviewed journals that examine any assessment tool for FD, particularly, those that contribute to the diagnosis, screening, classification, stratification, and evaluation. Only articles with full text available, published between 2017 and 2022, and written in English and Spanish will be included. Methods: Search will be developed by a librarian and conducted on the following databases: Cochrane Database of Systematic Reviews, Epistemonikos, Biblioteca Virtual en Salud, Otseeker, PEDro, Pubmed, IngentaConnect, Directory of Open Access Journals, SpringerLink, Wiley, SAGE, and Scielo. Selection of studies will be independently conducted by calibrated reviewers through the title, abstract, and full-text screening, followed by data charting and drafting of tables, figures, and diagrams.