Decision-making in thrombophilia: an analysis of consistency between guidelines and clinical practice

Abstract

INTRODUCTION: The management of venous thromboembolism is an area with recent changes and relatively low-quality evidence and involves several medical specialties. Substantial variation in practice is therefore expected and may sometimes have harmful consequences. In this context, the study assessed physicians’ knowledge of indications for thrombophilia testing to understand discrepancies in this area and bring colleagues closer to the most robust evidence. METHODOLOGY: This descriptive study used Google Forms questionnaires containing identification questions and clinical cases. Participants indicated whether thrombophilia testing was needed. Responses were classified as correct or incorrect based on evidence available in the scientific literature. RESULTS: Twenty-nine responses were collected from different specialties, with graduation years ranging from 1976 to 2024. In cases 2 and 3, more than 70% of participants indicated testing, whereas in cases 1, 4, and 5, more than 70% did not. DISCUSSION: According to the 2023 ASH guidelines, testing should be considered only when it can change clinical management, such as in cases with removable risk factors, thrombosis at unusual sites, or a high-risk family history. In clinical case 1, in which the patient had a high body mass index, three-quarters of physicians would not indicate testing, consistent with the evidence. In case 2, although the issue was controversial, 89.2% indicated testing, demonstrating a tendency to investigate cases involving family history. In case 3, 92.3% indicated testing for a pregnant woman with previous miscarriages, contrary to robust evidence. Cases 4 and 5 showed greater agreement with the guidelines. Gynecology, rheumatology, nephrology, and oncology had lower proportions of correct responses. Testing remains controversial and is often overused in practice even when it does not alter management. Indiscriminate test ordering may increase healthcare-system costs and conflict with the principles of quaternary prevention. CONCLUSION: There is substantial divergence between evidence and medical practice in thrombophilia testing, especially in obstetrics. This may reflect educational gaps and clinical uncertainty and reinforces the importance of continuing medical education.