von Willebrand disease

von Willebrand`s disease is the most common inherited bleeding disorder and affects one in every 1,000 people. It is characterized by an alteration in the adhesion and aggregation of blood platelets that increases the risk of bleeding.

Von Willebrand factor (vWF) is an essential glycoprotein during blood coagulation that occurs when there is an injury, e.g. injury to a blood capillary. VWF is responsible for mediating platelet adhesion and aggregation in damaged tissue and is also involved in the transport of clotting factor VIII (FVIII) in plasma.

Von Willebrand disease (VWD) may be caused by a defect in the gene that produces VWF, called the VWF gene. Alterations in the VWF gene can lead to decreased levels of VWF and clotting factor VIII in the blood and trigger the disease.

VWD is classified into different types depending on how it affects VWF levels and function. VWD type 1 produces a partial deficiency of vWF, generally follows an autosomal dominant mode of inheritance with incomplete penetrance, although some mutations follow an autosomal recessive mode of inheritance. A disease-causing mutation is considered to have incomplete penetrance when not all individuals with the mutation show symptoms.

VWD type 2 has different subtypes with autosomal dominant and recessive inheritance depending on the subtype and produces hemorrhages ranging from mild to moderate severity. VWD type 3 is the most severe form, is inherited recessively and patients have complete VWF deficiency.


The severity of bleeding and its frequency in VWD is highly variable and depends on the patient`s VWF levels and clotting factor VIII activity. The most common symptoms in patients with mild VWD include: mucosal bleeding such as epistaxis or nosebleeds, gingival bleeding, menorrhagia (excessive and prolonged menstrual blood loss) and prolonged bleeding after surgery and dental extractions.

More severe symptoms such as hemarthrosis or gastrointestinal bleeding and soft tissue bruising often occur only in individuals with the more severe and less frequent form of the disease.

Disease management

Treatment focuses on controlling acute bleeding and preventing the risk of hemorrhage. Hemostatic drugs such as desmopressin are available to prevent and control bleeding, and injectable VWF/FVIII concentrates are used for substitution therapy.

Genes analyzed



Baronciani L, Peyvandi F. How we make an accurate diagnosis of von Willebrand disease. Thromb Res. 2020 Dec;196:579-589.

Casonato A, Pontara E, Morpurgo M, et al . Higher and lower active circulating VWF levels: different facets of von Willebrand disease. Br J Haematol. 2015 Dec;171(5):845-53.

Goodeve A. Diagnosing von Willebrand disease: genetic analysis. Hematology Am Soc Hematol Educ Program. 2016 Dec 2;2016(1):678-682.

James PD, Goodeve AC. von Willebrand disease. Genet Med. 2011 May;13(5):365-76.

James AH, Eikenboom J, Federici AB. State of the art: von Willebrand disease. Haemophilia. 2016 Jul;22 Suppl 5:54-9.

Johansson AM, Halldén C, Säll T, et al . Variation in the VWF gene in Swedish patients with type 1 von Willebrand Disease. Ann Hum Genet. 2011 Jul;75(4):447-55.

Kauskot A, Poirault-Chassac S, Adam F, Muczynski V, Aymé G, Casari C, et al . LIM kinase/cofilin dysregulation promotes macrothrombocytopenia in severe von Willebrand disease-type 2B. JCI Insight. 2016 Oct 6;1(16):e88643.

Manderstedt E, Lind-Halldén C, Lethagen S, Halldén C . Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients. TH Open. 2018 Jan 30;2(1):e39-e48.

Pagliari MT, Baronciani L, Stufano F, et al . von Willebrand disease type 1 mutation p.Arg1379Cys and the variant p.Ala1377Val synergistically determine a 2M phenotype in four Italian patients. Haemophilia. 2016 Nov;22(6):e502-e511.

Sharma R, Flood VH. Advances in the diagnosis and treatment of Von Willebrand disease. Blood. 2017 Nov 30;130(22):2386-2391.

Zhang ZP, Lindstedt M, Falk G, et al . Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I. Am J Hum Genet. 1992 Oct;51(4):850-8.

Haven't you taken a DNA test yet?

Get your genetic test and find out all about yourself.

Starter DNA test

Ancestry, Traits and Wellness

DNA test Advanced DNA test

Health, Ancestry, Traits and Wellness

Summer Sale Only until July 25 on our DNA tests. Use our code SUMMER15