| von Willebrand disease | |
|---|---|
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| von Willebrand disease types I and II are inherited in an autosomal dominant pattern. | |
| Pronunciation | |
| Specialty | Hematology |
Von Willebrand disease (VWD) is the most common hereditary blood-clotting disorder in humans. An acquired form can sometimes result from other medical conditions.[1] It arises from a deficiency in the quality or quantity of von Willebrand factor (VWF), a multimeric protein that is required for platelet adhesion. It is known to affect several breeds of dogs as well as humans. The three forms of VWD are hereditary, acquired, and pseudo or platelet type. The three types of hereditary VWD are VWD type 1, VWD type 2, and VWD type 3. Type 2 contains various subtypes.[2] Platelet type VWD is also an inherited condition.[3]
In 2008 a new diagnostic category of "Low VWF" was proposed to include those individuals whose von Willebrand factor levels were in the 30–50 IU/dL range, below the normal reference range but not low enough to be von Willebrand disease.[4] Patients with low VWF were sometimes noted to experience bleeding, despite mild reductions in VWF levels.[5] The 2021 ASH/ISTH guidelines re-classified patients with levels in the 30–50 IU/dl range as "Low VWF" if they have no bleeding, but as having VWD if they have bleeding.[6]
VWD type 1 is the most common type of the disorder, with mild bleeding symptoms such as nosebleeds, though occasionally more severe symptoms can occur. Blood type can affect the presentation and severity of symptoms of VWD.[7]
VWD type 2 is the second most common type of the disorder and has mild to moderate symptoms.
The factor is named after the Finnish physician Erik Adolf von Willebrand who first described the condition in 1926. Guidelines for the diagnosis and management of VWD were updated in 2021.[6][8]
- ^ MedlinePlus Encyclopedia: Von Willebrand disease
- ^ Kaur V, Elghawy O, Deshpande S, Riley D (February 2024). "von Willebrand disease: A guide for the internist". Cleve Clin J Med. 91 (2): 119–127. doi:10.3949/ccjm.91a.22033. PMID 38307601.
- ^ Swystun LL, James PD (January 2017). "Genetic diagnosis in hemophilia and von Willebrand disease". Blood Reviews. 31 (1): 47–56. doi:10.1016/j.blre.2016.08.003. PMID 27596108.
- ^ Nichols WL, Hultin MB, James AH, Manco-Johnson MJ, Montgomery RR, Ortel TL, Rick ME, Sadler JE, Weinstein M, Yawn BP (March 2008). "von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA)". Haemophilia. 14 (2): 171–232. doi:10.1111/j.1365-2516.2007.01643.x. PMID 18315614.
- ^ Lavin M, Aguila S, Schneppenheim S, Dalton N, Jones KL, O'Sullivan JM, O'Connell NM, Ryan K, White B, Byrne M, Rafferty M, Doyle MM, Nolan M, Preston RJ, Budde U, James P, Di Paola J, O'Donnell JS (November 2017). "Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels". Blood. 130 (21): 2344–53. doi:10.1182/blood-2017-05-786699. PMC 5881608. PMID 28916584.
- ^ a b James PD, Connell NT, Ameer B, Di Paola J, Eikenboom J, Giraud N, et al. (2021-01-12). "ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease". Blood Advances. 5 (1): 280–300. doi:10.1182/bloodadvances.2020003265. ISSN 2473-9529. PMC 805340. PMID 33570651.
- ^ "Von Willebrand Disease". hemophilia.org. 4 March 2014. Retrieved 4 April 2018.
- ^ Connell NT, Flood VH, Brignardello-Petersen R, Abdul-Kadir R, Arapshian A, Couper S, et al. (2021-01-12). "ASH ISTH NHF WFH 2021 guidelines on the management of von Willebrand disease". Blood Advances. 5 (1): 301–325. doi:10.1182/bloodadvances.2020003264. PMC 805326. PMID 33570647.