2B von Willebrand disease diagnosis: Considerations reflecting on 2021 multisociety guidelines
Bibliographic record
Abstract
The recent American Society of Hematology/ISTH/National Hemophilia Foundation/World Federation of Hemophilia 2021 guidelines on the diagnosis of von Willebrand disease (VWD) is an outstanding effort to unify the diagnosis of VWD. However, as mentioned in the guidelines, there are limitations due to the low certainty in the evidence identified for most questions. The panel encouraged critical review of the guidelines. Compared to other subtypes, there is considerable complexity with diagnosis of type 2B VWD, a type that results from a gain-of-function mutation in the VWF gene. Additionally, the discrimination from its phenocopy platelet-type VWD, representing a gain-of-function mutation in the GP1BA gene, is crucial as this determines treatment decisions. In this forum, we highlight the complexities of a type 2B VWD diagnosis; discuss important issues with respect to these complexities: genotype/phenotype/clinical correlations, challenges with platelet aggregation and ristocetin-induced platelet agglutination testing, platelet count, and thrombocytopathy; and, finally, suggest the consideration of some of these complexities in future iterations of the VWD guidelines.
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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 | 0.022 | 0.085 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.002 |
| Science and technology studies | 0.003 | 0.002 |
| Scholarly communication | 0.005 | 0.005 |
| Open science | 0.003 | 0.003 |
| Research integrity | 0.012 | 0.014 |
| Insufficient payload (model declined to judge) | 0.006 | 0.004 |
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".