Risk factors for cardiovascular events in patients with heterozygous familial hypercholesterolaemia: protocol for a systematic review

María Elena Mansilla-Rodríguez, Manuel J Romero-Jimenez, Alina Rigabert sánchez-Junco, Eva Nadiedja Gutierrez-Cortizo, José Luis Sánchez-Ramos, Pedro Mata, Jing Pang, Gerald F Watts

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)


Introduction Heterozygous familial hypercholesterolaemia(heFH) is the most common monogenic cause of premature atherosclerotic cardiovascular disease. The precise diagnosis of heFH is established by genetic testing. This systematic review will investigate the risk factors that predict cardiovascular events in patients with a genetic diagnosis of heFH.

Methods and analysis Our literature search will cover publications from database inception until June2023. We will undertake a search of CINAHL (trial),clinicalKey, Cochrane Library, DynaMed, Embase, Espacenet, Experiments (trial), Fisterra, ÍnDICEs CSIC, LILACS, LISTA, Medline, Micromedex, NEJM Resident360, OpenDissertations, PEDro, Trip Database, PubPsych, Scopus, TESEO, UpToDate, Web of Science and the grey literature for eligible studies. We will screen the title, abstract and full-text papers for potential inclusion and assess the risk of bias. We will employ the Cochrane tool for randomised controlled trials and non-randomised clinical studies and the Newcastle–Ottawa Scale for assessing the risk of bias in observational studies. We will include full-text peer-reviewed publications, reports of a cohort/registry, case–control and cross-sectional studies, case report/series and surveys related to adults (≥18 years of age) with a genetic diagnostic heFH. The language of the searched studies will be restricted to English or Spanish. The Grading of Recommendations, Assessment, Development and Evaluation approach will be used to assess the quality of the evidence. Based on the data available, the authors will determine whether the data can be pooled in meta-analyses.

Ethics and dissemination All data will be extracted from published literature. Hence, ethical approval and patient informed consent are not required. The findings of the systematic review will be submitted for publication in a peer-reviewed journal and presentation at international conferences.

PROSPERO registration number CRD42022304273.
Original languageEnglish
Article numbere065551
JournalBMJ Open
Issue number3
Early online date29 Mar 2023
Publication statusPublished - 29 Mar 2023


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