Abordaje diagnóstico de trombofilias hereditarias clásicas en la población adulta. Revisión sistemática de la literatura según directrices PRISMA.

Abstract

Background: Procoagulant pathologies generate thrombotic processes chronically and silently in humans. Among these, hereditary thrombophilias stand out as the main genetic cause. A timely diagnosis by hematological or genetic methods is crucial to prevent fatal consequences in the affected adult population (1). Objective: To synthesize the available scientific evidence on the diagnostic approach of classical hereditary thrombophilias in the adult population. Methods: Retrospective observational study by Systematic Literature Review under PRISMA guidelines. The study population included adults and was conducted in international databases (PubMed, Science Direct, EBSCO, Cochrane Library, Scopus). The data collection instrument was Zotero, a bibliographic tool that collected articles from digital databases. A Microsoft Excel matrix created Ad Hoc containing articles published on the topic was used. Eligibility criteria were applied and Sackett classification was applied to assess quality. Subsequently, descriptive statistics were used to present the information obtained, together with a narrative synthesis. Results: We obtained 22 articles, 15 of which belonged to European countries: Germany, Ireland, Italy, the Netherlands and the United Kingdom. The most studied Classical Hereditary Thrombophilia was Factor V Leiden. Conclusions: In the United States, research prioritizes portal vein thrombosis. A clear lack of correlation with obstetric outcomes has been noted. In contrast, in the European countries mentioned, the connection between thrombotic events and obstetric conditions is highlighted, underlining the importance of screening and its repetition as needed.