Evidence map›Paper›PMID 39975577›Full record

ArticleResearch and practice in thrombosis and haemostasis2025

Global prevalence of platelet-type von Willebrand disease.

Omid Seidizadeh, Andrea Cairo, Maha Othman, Flora Peyvandi

Abstract read
In one paragraph

Article in Research and practice in thrombosis and haemostasis, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Omid SeidizadehDepartment of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.
Andrea CairoFondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.
Maha OthmanDepartment of Biomedical & Molecular Sciences, Queen's University, Kingston, Ontario, Canada.
Flora PeyvandiDepartment of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Platelet-type von Willebrand disease (PT-VWD) is a rare autosomal dominant disorder. It is caused by gain-of-function gene variants in the platelet Objectives: To establish the worldwide and within distinct ethnic groups prevalence of PT-VWD. Methods: We used available exome and genome sequencing data of 807,162 (730,947 exomes and 76,215 genomes) subjects from the Genome Aggregation Database (gnomAD-v4.1). Results: Among the 1,614,324 alleles analyzed in the gnomAD population, there were 1397 distinct Conclusion: This population-based genetic epidemiology analysis indicates a substantially higher than expected frequency of PT-VWD. This novel finding suggests that a large number of PT-VWD patients are still under- or misdiagnosed.

Indexed as

gnomADGP1BAplatelet disordersprevalencePT-VWDVWD

Identifiers

PMID39975577
PMCPMC11836505

What OpenQuestion holds

Textmetadata
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.