Prevalence and factors associated with high-risk thrombophilia: a single-center cross-sectional study of 3550 patients at a tertiary Thrombosis Centre in Switzerland
Bibliographic record
Abstract
Background Thrombophilia testing remains controversial, with no standardized recommendations across patient populations. Objectives Given the clinical significance of high-risk thrombophilia (homozygous factor V Leiden or prothrombin G20210A mutations, natural anticoagulant deficiencies, and antiphospholipid antibody syndrome [APS]), we aimed to determine its prevalence and the clinical and laboratory factors associated with its diagnosis across diverse patient populations. Methods We conducted a single-center cross-sectional study of 3550 patients tested for thrombophilia at a tertiary thrombosis clinic between 2010 and 2020. Analyses were performed in the entire cohort and by referral indication. Univariate logistic regression was used to calculate the effect measures between clinical and laboratory characteristics of referred patients and high-risk thrombophilia. Results High-risk hereditary thrombophilia and APS were found in 155 (8%) and 67 (3%) tested patients with venous thromboembolism (VTE), in 25 (7%) and 40 (7%) tested patients with unexplained arterial thrombosis, and in 18 (17.2%) and 12 (11%) tested women with pregnancy-related morbidity, respectively. The prevalence of high-risk hereditary thrombophilia and APS was comparable in patients with unprovoked and major risk factor-provoked VTE (5.2% vs 8.2%, P = .1; 3.5% vs 2.8%, P = .9, respectively). A total of 37 (12%) of the tested asymptomatic family members had hereditary high-risk thrombophilia. Patients aged <50 years with VTE, a family history of VTE in a first-degree relative, no comorbidities, and D-dimer > 500 μg/L at the time of thrombophilia testing were more likely to have high-risk hereditary thrombophilia. Conclusion High-risk thrombophilia was mostly prevalent in women with pregnancy-related morbidity. The prevalence of thrombophilia in patients with VTE was comparable, irrespective of VTE risk factors. Several clinical characteristics were associated with high-risk hereditary thrombophilia in patients with VTE.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".