Managing Fabry Disease: a Scoping Review about Assessment Methods of a Rare Disorder
| Autor: | Morita4887, Stegmann, Jorgelina, Sabino, Agustina, Campos, Letícia Nunes, Cabanillas-Lazo, Miguel, Politei, Juan Manuel, Quispe-Vicuña, Carlos, Morales, Natalia Soledad, Gonzales, Bill Albert Soldevilla, Stegmann, Carlos, Wilches, Beatriz Elena Cano, Zelcer, Federico Fernandez, Fernández-Guzmán, Daniel |
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| Rok vydání: | 2023 |
| Předmět: |
Diffuse Angiokeratoma
Medical Sciences Patient-centered care Follow-up Scoping Review Angiokeratoma Corporis Diffusum Alpha-galactosidase A deficiency Anderson-Fabry disease Analytical Diagnostic and Therapeutic Techniques and Equipment Other Analytical Diagnostic and Therapeutic Techniques and Equipment Rare Disease Diagnosis Medicine and Health Sciences Screening Fabry Disease Stratification Medical Genetics |
| DOI: | 10.17605/osf.io/ua2sk |
| Popis: | Objective: This scoping review aims to assess the current evidence involving the screening, diagnosis and classification, risk stratification, and surveillance of patients with Fabry Disease (FD). Introduction: Due to its heterogeneous presentation and rare frequency, FD is significantly misdiagnosed. Understanding how 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 describe methods to assess FD patients, particularly those related to diagnosis and classification, screening, stratification, and follow-up. Only articles with full text available, published between 2017 and 2023, and written in English and Spanish will be included. Methods: The search strategy will be developed by a librarian and conducted on six databases. Selection of studies will be independently conducted by calibrated reviewers through the title, abstract, and full-text screening, followed by data charting. Quantitative (e.g., frequencies and percentages) and qualitative (e.g., classification of assessment methods) synthesis will be conducted. |
| Databáze: | OpenAIRE |
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