von Willebrand disease.

Autor: Seidizadeh O; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy., 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., 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., Flood VH; Department of Paediatrics, Medical College of Wisconsin, Milwaukee, WI, USA., James P; Department of Medicine, Queen's University, Kingston, Ontario, Canada., 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., Baronciani L; Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy., O'Donnell JS; Irish Centre for Vascular Biology, School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland., Lillicrap D; Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada., 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.
Jazyk: angličtina
Zdroj: Nature reviews. Disease primers [Nat Rev Dis Primers] 2024 Jul 25; Vol. 10 (1), pp. 51. Date of Electronic Publication: 2024 Jul 25.
DOI: 10.1038/s41572-024-00536-8
Abstrakt: 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.
(© 2024. Springer Nature Limited.)
Databáze: MEDLINE
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