Undetected Factor VIII Level in a Type III von Willebrand Disease (vWD) Patient Masquerading as Severe Hemophilia A.
Bibliographic record
Abstract
Abstract Type III vWD is a rare disorder characterized by absent or <0.01u/ml of ristocetin cofactor (vW:RCoF), and a Factor (F) VIII:C of 0.03–0.10 u/ml. A total absence of FVIII:C has never been reported in type III vWD. We wish to report one such case where there was no measurable level of FVIII:C in a child leading to an initial diagnosis of severe haemophilia A. This patient presented at birth with post circumcision bleeding that was controlled with local measures. A packed RBC transfusion of 12 ml/kg body weight was given to correct acute blood loss. Coagulation studies performed before red cell transfusion revealed a FVIII:C of <0.01u/ml leading to diagnosis of severe haemophilia A. Patient required no further treatment to control bleeding. At 14 months of age the patient presented with an intracranial hemorrhage (ICH). rAHF (KogenateFS®) in doses of 50 to 400 u/kg resulted in poor recovery, half-life of 88 minutes and an in vivo survival of less than 4 hours. There was no FVIII:C inhibitor but vWF:RCoF, vWF:Ag and vWF multimers were totally absent. vWF concentrate (Humate-P®) in doses of 50–100/u/kg as vW:RCoF resulted in good clinical response, appropriate in vivo recovery and survival as shown in graphs below. This patient has made an excellent recovery and is fully functional 8 weeks after the ICH. Further enquiry into the family history revealed consanguinity with marriage between first cousins. A female cousin is also affected with easy bruising. Both parents have normal FVIII:C and borderline low vWF:RCoF. DNA analysis of the parents, propositus and unaffected siblings is in progress. Our case illustrates the importance of excluding Type III vWD at initial diagnosis even when the FVIII:C is <0.01u/ml instead of assuming it to be a severe haemophilia A. Figure Figure Figure Figure
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.002 | 0.002 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
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".