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von Willebrand disorder(VWD)

MedGen UID:
22686
Concept ID:
C0042974
Disease or Syndrome
Synonyms: Von Willebrand disease (hereditary or acquired); von Willebrand Diseases; von Willebrand's disease; VWD
SNOMED CT: von Willebrand disorder (128105004); Angiohemophilia (128105004); Pseudohemophilia type B (128105004); Vascular hemophilia (128105004); Constitutional thrombopathy (128105004); Factor VIII deficiency with vascular defect (128105004); von Willebrand disease (128105004); vWD - von Willebrand's disease (128105004); von Willebrand's disease (128105004); von Willebrand-Jurgens disease (128105004)
 
Related genes: VWF, GP1BA
 
Monarch Initiative: MONDO:0024574

Definition

Von Willebrand disease is a bleeding disorder that slows the blood clotting process, causing prolonged bleeding after an injury. People with this condition often experience easy bruising, long-lasting nosebleeds, and excessive bleeding or oozing following an injury, surgery, or dental work. Mild forms of von Willebrand disease may become apparent only when abnormal bleeding occurs following surgery or a serious injury. People with this condition who have menstrual periods typically have heavy or prolonged bleeding during menstruation (menorrhagia), and some may also experience reproductive tract bleeding during pregnancy and childbirth. In severe cases of von Willebrand disease, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Symptoms of von Willebrand disease may change over time. Increased age, pregnancy, exercise, and stress may cause bleeding symptoms to become less frequent.

Von Willebrand disease is divided into three types. Type 1 has one subtype (1C), and type 2 is divided into four subtypes (2A, 2B, 2M, and 2N). Type 1 is the most common of the three types, accounting for 75 percent of affected individuals. Type 1 is typically mild, but some people are severely affected. Type 2 accounts for about 15 percent of cases. This type is usually of intermediate severity. Type 3 is the rarest form of the condition, accounting for about 5 percent of affected individuals, and is usually the most severe. 

Another form of the disorder, acquired von Willebrand syndrome, is not caused by inherited gene variants (also called mutations).  Acquired von Willebrand syndrome is typically seen in people with other disorders, such as diseases that affect bone marrow or immune cell function. This rare form of the condition is characterized by abnormal bleeding into the skin and other soft tissues, usually beginning in adulthood. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Shortt J, Opat SS, Gorniak MB, Aumann HA, Collecutt MF, Street AM
Int J Lab Hematol 2010 Feb;32(1 Pt 1):e181-3. Epub 2008 Oct 29 doi: 10.1111/j.1751-553X.2008.01117.x. PMID: 19016919
Naranja RJ Jr, Chan PS, High K, Esterhai JL Jr, Heppenstall RB
Orthopedics 1997 Aug;20(8):706-9; quiz 710-1. doi: 10.3928/0147-7447-19970801-10. PMID: 9263290

Recent clinical studies

Etiology

Icheva V, Nowak-Machen M, Budde U, Jaschonek K, Neunhoeffer F, Kumpf M, Hofbeck M, Schlensak C, Wiegand G
J Thromb Haemost 2018 Nov;16(11):2150-2158. Epub 2018 Sep 16 doi: 10.1111/jth.14208. PMID: 29908036
Favaloro EJ
Semin Thromb Hemost 2006 Jul;32(5):456-71. doi: 10.1055/s-2006-947859. PMID: 16862518
Favaloro EJ, Soltani S, McDonald J
Am J Clin Pathol 2004 Nov;122(5):686-92. doi: 10.1309/E494-7DG4-8TVY-19C2. PMID: 15491964
Favaloro EJ
Best Pract Res Clin Haematol 2001 Jun;14(2):299-319. doi: 10.1053/beha.2001.0135. PMID: 11686101
Susman-Shaw A
Nurs Stand 1999 Apr 14-20;13(30):39-44. doi: 10.7748/ns1999.04.13.30.39.c7466. PMID: 10418493

Diagnosis

Dahiya DS, Kichloo A, Zain EA, Singh J, Wani F, Mehboob A
J Investig Med High Impact Case Rep 2021 Jan-Dec;9:2324709621997279. doi: 10.1177/2324709621997279. PMID: 33629596Free PMC Article
Icheva V, Nowak-Machen M, Budde U, Jaschonek K, Neunhoeffer F, Kumpf M, Hofbeck M, Schlensak C, Wiegand G
J Thromb Haemost 2018 Nov;16(11):2150-2158. Epub 2018 Sep 16 doi: 10.1111/jth.14208. PMID: 29908036
Favaloro EJ
Semin Thromb Hemost 2006 Jul;32(5):456-71. doi: 10.1055/s-2006-947859. PMID: 16862518
Favaloro EJ
Curr Opin Hematol 2002 Sep;9(5):407-15. doi: 10.1097/00062752-200209000-00004. PMID: 12172459
Susman-Shaw A
Nurs Stand 1999 Apr 14-20;13(30):39-44. doi: 10.7748/ns1999.04.13.30.39.c7466. PMID: 10418493

Therapy

Howman R, Barnes C, Curtin J, Price J, Robertson J, Russell S, Seldon M, Suppiah R, Teague L, Barrese G
Haemophilia 2011 May;17(3):463-9. Epub 2010 Dec 1 doi: 10.1111/j.1365-2516.2010.02445.x. PMID: 21118340
Favaloro EJ, Lloyd J, Rowell J, Baker R, Rickard K, Kershaw G, Street A, Scarff K, Barrese G, Maher D, McLachlan AJ
Thromb Haemost 2007 Jun;97(6):922-30. PMID: 17549293
Shortt J, Dunkley S, Rickard K, Baker R, Street A
Haemophilia 2007 Mar;13(2):144-8. doi: 10.1111/j.1365-2516.2006.01430.x. PMID: 17286766
Favaloro EJ
Semin Thromb Hemost 2006 Jul;32(5):456-71. doi: 10.1055/s-2006-947859. PMID: 16862518
Favaloro EJ, Kershaw G, Bukuya M, Hertzberg M, Koutts J
Haemophilia 2001 Mar;7(2):180-9. doi: 10.1046/j.1365-2516.2001.00487.x. PMID: 11260278

Prognosis

Icheva V, Nowak-Machen M, Budde U, Jaschonek K, Neunhoeffer F, Kumpf M, Hofbeck M, Schlensak C, Wiegand G
J Thromb Haemost 2018 Nov;16(11):2150-2158. Epub 2018 Sep 16 doi: 10.1111/jth.14208. PMID: 29908036
Favaloro EJ
Semin Thromb Hemost 2006 Jul;32(5):537-45. doi: 10.1055/s-2006-947869. PMID: 16862528
Favaloro EJ
Curr Opin Hematol 2002 Sep;9(5):407-15. doi: 10.1097/00062752-200209000-00004. PMID: 12172459
Favaloro EJ, Kershaw G, Bukuya M, Hertzberg M, Koutts J
Haemophilia 2001 Mar;7(2):180-9. doi: 10.1046/j.1365-2516.2001.00487.x. PMID: 11260278

Clinical prediction guides

Icheva V, Nowak-Machen M, Budde U, Jaschonek K, Neunhoeffer F, Kumpf M, Hofbeck M, Schlensak C, Wiegand G
J Thromb Haemost 2018 Nov;16(11):2150-2158. Epub 2018 Sep 16 doi: 10.1111/jth.14208. PMID: 29908036
Shortt J, Dunkley S, Rickard K, Baker R, Street A
Haemophilia 2007 Mar;13(2):144-8. doi: 10.1111/j.1365-2516.2006.01430.x. PMID: 17286766
Favaloro EJ
Semin Thromb Hemost 2006 Jul;32(5):537-45. doi: 10.1055/s-2006-947869. PMID: 16862528
Favaloro EJ
Curr Opin Hematol 2002 Sep;9(5):407-15. doi: 10.1097/00062752-200209000-00004. PMID: 12172459
Favaloro EJ, Kershaw G, Bukuya M, Hertzberg M, Koutts J
Haemophilia 2001 Mar;7(2):180-9. doi: 10.1046/j.1365-2516.2001.00487.x. PMID: 11260278

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