Clinical and Biological Determinants of Bleeding Manifestation in Congenital Factor XI Deficiency; A Systematic Review
Bibliographic record
Abstract
Abstract Background: Congenital factor XI (FXI) deficiency is a rare inherited bleeding disorder caused by mutation of the FXI gene. Clinical manifestation and bleeding severity of FXI deficiency are varied. To our best knowledge, there are no studies investigating the predictors of bleeding in these patient population. Our study aims to investigate the clinical presentation of congenital FXI deficiency and to identify clinical, biological, and genetic determinants of bleeding. Methods: We conducted a systematic search in MEDLINE and EMBASE databases from inception to March 2016. We included the studies of congenital FXI deficiency. In terms of study design, we included prospective or retrospective studies as well as case series and case reports. We collected clinical characteristics of the patients including age, sex, family history of FXI deficiency, family history of bleeding, and site of bleeding. We also collected the laboratories including baseline aPTT, FXI level, and genetic test results. Results: There were 141 studies included in this review, involving 728 patients with reported congenital FXI deficiency. Forty-three percent of the patients were male. Clinical characteristics of the patients was demonstrated in Table 1. Of these, 421 (51.84%) patients had bleeding tendency. Surgical bleeding was the most common bleeding manifestation (31.88%), following bymucocutaneous bleeding (13.35%) and hypermenorrhea (9.11%). Factor XI gene mutation was found in 422 patients (57.97%). Type II mutation was the most common reported mutation (45.19%). With regards tozygosity of patients with gene mutation, 43.94% of patients had heterozygosity of factor XI gene mutation. Univariate analysis revealed that patients with baseline factor XI level less than 25% were associated with higher risk of bleeding (odd ratio 1.48 (95% confidence interval [CI]; 1.05 to 2.09). In addition, patients with combined mutation were at higher risk of bleeding when compared to patients with single mutation (odd ratio 2.83 (95% CI; 1.09-7.39). Conclusion: Our study found that patients with factor XI deficiency has mild bleeding manifestation. Half of the patients do not experience bleeding tendency. Surgical bleeding is the most common presentation in these patient population and likely to be the first bleeding symptom. Baseline factor XI level less than 25% is the predictor of bleeders as well as combined gene mutation. Table 1 Characteristics of patients with congenital factor XI deficiency Table 1. Characteristics of patients with congenital factor XI deficiency Disclosures No relevant conflicts of interest to declare.
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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 | 0.002 | 0.014 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.004 | 0.003 |
| Bibliometrics | 0.011 | 0.015 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 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".