Analysis of the relationship between genetic mutation, clinical manifestations and prognosis in hereditary angioedema: scoping review protocol

Hereditary Angioedema (HAE) is a rare and severe genetic autosomal dominant disease of the immune system, caused by a deficiency of C1 esterase inhibitor (C1-INH). Classified into 3 subtypes: HAE with quantitative deficiency of the C1-INH inhibitor, C1-INH dysfunction, and normal C1-INH.The objective is to present a protocol examining the evidence on the relationship between mutations, clinical manifestations and prognosis in AEH. A systematic review will be conducted according to the steps: formulation of the clinical question (PICO), protocol with inclusion and exclusion criteria, conduction of a broad bibliographical search, extraction and summary of the included studies. This systematic review will follow the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). Evidence will be obtained from the Pubmed, Embase, Web of Science and Scopus databases in the last 10 years. The selection of descriptors will be conducted using the Health Sciences Descriptors (DeCs), with the Boolean operators “AND and OR”, which will result in a search strategy for each proposed database. The selection will be conducted by two independent reviewers based on pre-determined criteria. In case of any discrepancy between the two reviewers, a third reviewer will mediate the conflict. Each study included will be assessed using the ROBINS-I, for the risk of bias, following the Oxford Evidence Base Center level of evidence and recommendation. Kappa Statistic will be used to assess inter-rater reliability. This systematic review will allow a greater understanding of HAE, and provide scientific evidence for healthcare professionals involved in the diagnosis and treatment of this disease.