von Willebrand disease.

Humans von Willebrand Diseases / diagnosis von Willebrand Factor / analysis Deamino Arginine Vasopressin / therapeutic use Female Hemostatics / therapeutic use Hemorrhage / physiopathology

Journal

Nature reviews. Disease primers
ISSN: 2056-676X
Titre abrégé: Nat Rev Dis Primers
Pays: England
ID NLM: 101672103

Informations de publication

Date de publication:
25 Jul 2024
Historique:
accepted: 27 06 2024
medline: 26 7 2024
pubmed: 26 7 2024
entrez: 25 7 2024
Statut: epublish

Résumé

von Willebrand disease (VWD) is the most common inherited bleeding disorder. The disorder is characterized by excessive mucocutaneous bleeding. The most common bleeding manifestations of this condition include nosebleeds, bruising, bleeding from minor wounds, menorrhagia or postpartum bleeding in women as well as bleeding after surgery. Other less frequent symptoms include gastrointestinal bleeding, haematomas or haemarthroses. VWD pathophysiology is complex and results from defects in von Willebrand factor (VWF) glycoprotein. Quantitative deficiencies are responsible for type 1 VWD with a partial decrease of VWF and type 3 with the complete absence of VWF. Qualitative abnormalities cause type 2 VWD, being further divided into types 2A, 2B, 2M and 2N. Although common, VWD is at risk of misdiagnosis, overdiagnosis and underdiagnosis owing to several factors, including complex diagnosis, variability of bleeding symptoms, presence of external variables (blood groups and other physiological modifiers such as exercise, thyroid hormones, oestrogens, and ageing), and lack of disease awareness among non-specialist health-care providers. Establishing the correct VWD diagnosis requires an array of specialized phenotypic assays and/or molecular genetic testing of the VWF gene. The management of bleeding includes increasing endogenous VWF levels with desmopressin or infusion of exogenous VWF concentrates (plasma-derived or recombinant). Fibrinolytic inhibitors, topical haemostatic agents and hormonal therapies are used as effective adjunctive measures.

Identifiants

DOI: 10.1038/s41572-024-00536-8 PMID: 39054329
pubmed: 39054329
doi: 10.1038/s41572-024-00536-8
pii: 10.1038/s41572-024-00536-8
doi:

Substances chimiques

von Willebrand Factor 0
Deamino Arginine Vasopressin ENR1LLB0FP
Hemostatics 0

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

51

Informations de copyright

© 2024. Springer Nature Limited.

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Auteurs

Omid Seidizadeh (O)

Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.
ORCID: 0000-0002-6630-7879

Jeroen C J Eikenboom (JCJ)

Department of Internal Medicine, Division of Thrombosis and Hemostasis, Einthoven Laboratory for Vascular and Regenerative Medicine, Leiden University Medical Center, Leiden, The Netherlands.
ORCID: 0000-0002-3268-5759

Cécile V Denis (CV)

Laboratory for Hemostasis, Inflammation & Thrombosis, Unité Mixte de Recherche 1176, Institut National de la Santé et de la Recherche Médicale, Université Paris-Saclay, Le Kremlin-Bicêtre, France.
ORCID: 0000-0001-5152-9156

Veronica H Flood (VH)

Department of Paediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.

Paula James (P)

Department of Medicine, Queen's University, Kingston, Ontario, Canada.

Peter J Lenting (PJ)

Laboratory for Hemostasis, Inflammation & Thrombosis, Unité Mixte de Recherche 1176, Institut National de la Santé et de la Recherche Médicale, Université Paris-Saclay, Le Kremlin-Bicêtre, France.

Luciano Baronciani (L)

Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.

James S O'Donnell (JS)

Irish Centre for Vascular Biology, School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland.

David Lillicrap (D)

Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada.

Flora Peyvandi (F)

Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy. flora.peyvandi@unimi.it.
Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy. flora.peyvandi@unimi.it.
ORCID: 0000-0001-7423-9864

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › von Willebrand disease.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Troubles héréditaires de la coagulation sanguine › Maladies de von Willebrand › von Willebrand disease.
questionsmedicales.fr › Facteurs biologiques › Facteurs de la coagulation sanguine › Facteur de von Willebrand › von Willebrand disease.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › Neuropeptides › Vasopressines › Arginine vasopressine › Desmopressine › von Willebrand disease.
questionsmedicales.fr › Actions chimiques et utilisations › Actions pharmacologiques › Utilisations thérapeutiques › Agents hématologiques › Coagulants › Hémostatiques › von Willebrand disease.
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Hémorragie › von Willebrand disease.