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von Willebrand disorder(VWD)

MedGen UID:
22686
Concept ID:
C0042974
Disease or Syndrome
Synonyms: von Willebrand Diseases; 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)
 
Orphanet: ORPHA903

Disease characteristics

Excerpted from the GeneReview: von Willebrand Disease
von Willebrand disease (VWD), a congenital bleeding disorder caused by deficient or defective plasma von Willebrand factor (VWF), may only become apparent on hemostatic challenge, and bleeding history may become more apparent with increasing age. Type 1 VWD (~70% of VWD) typically manifests as mild mucocutaneous bleeding. Type 2 VWD accounts for approximately 25% of VWD; the subtypes are: Type 2A, which usually manifests as mild to moderate mucocutaneous bleeding; Type 2B, which typically manifests as mild to moderate mucocutaneous bleeding that can include thrombocytopenia that worsens in certain circumstances; Type 2M, which typically manifests as mild-moderate mucocutaneous bleeding; Type 2N, which can manifest as excessive bleeding with surgery and mimics mild hemophilia A. Type 3 VWD (<5% of VWD) manifests with severe mucocutaneous and musculoskeletal bleeding. Diagnosis/testing The diagnosis of VWD typically requires assays of hemostasis factors specific for VWD and/or molecular genetic testing of VWF, the only gene in which pathogenic variants are known to cause VWD. In most cases the diagnosis requires a positive family history. ManagementTreatment of manifestations: Affected individuals benefit from care in a comprehensive bleeding disorders program. Severe bleeding episodes can be prevented or controlled with intravenous infusion of virally inactivated plasma-derived clotting factor concentrates containing both VWF and FVIII; depending on the VWD type, mild bleeding episodes usually respond to intravenous or subcutaneous treatment with desmopressin, a vasopressin analog. Other treatments that can reduce symptoms include fibrinolytic inhibitors and hormones for menorrhagia. Pregnant women with VWD are at increased risk for bleeding complications at or following childbirth. Prevention of primary manifestations: Prophylactic infusions of VWF/FVIII concentrates in individuals with type 3 VWD. Prevention of secondary complications: Cautious use of desmopressin (particularly in those age <2 years because of the potential difficulty in restricting fluids in this age group). Vaccination for hepatitis A and B. Surveillance: Follow up in centers experienced in the management of bleeding disorders. For those with type 3 VWD: periodic evaluations by a physiotherapist to monitor joint mobility. Agents/circumstances to avoid: Activities involving a high risk of trauma, particularly head injury; medications with effects on platelet function (ASA, clopidogrel, or NSAIDS); circumcision in infant males should only be considered following consultation with a hematologist. Evaluation of relatives at risk: If the familial pathogenic variant(s) are known, molecular genetic testing for at-risk relatives to allow early diagnosis and treatment, if needed. Pregnancy management: As VWF levels increase throughout pregnancy, women with baseline VWF and FVIII levels of >30 IU/dL are likely to achieve normal levels by the time of delivery, whereas those with a basal level <20 IU/dL and those with baseline VWF:RCo/VWF:Ag ratio <0.6, are likely to require replacement therapy; desmopressin has been used successfully to cover delivery in women with type 1 VWD; delayed, secondary postpartum bleeding may be a problem. Therapies under investigation: Recombinant VWF, now in clinical trials, is expected to be available soon for use instead of plasma-derived VWF. [from GeneReviews]
Authors:
Anne Goodeve  |  Paula James   view full author information

Additional description

From GHR
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. Women with this condition 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, with type 2 being further divided into four subtypes. Type 1 is the mildest and most common of the three types, accounting for 75 percent of affected individuals. Type 3 is the most severe and rarest form of the condition. The four subtypes of type 2 von Willebrand disease are intermediate in severity. Another form of the disorder, acquired von Willebrand syndrome, is not caused by inherited gene mutations. Acquired von Willebrand syndrome is typically seen along 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.  http://ghr.nlm.nih.gov/condition/von-willebrand-disease

Recent clinical studies

Etiology

Broderick CR, Herbert RD, Latimer J, Curtin JA
Haemophilia 2010 Jan;16(1):118-23. Epub 2009 Aug 26 doi: 10.1111/j.1365-2516.2009.02096.x. [Epub ahead of print] PMID: 19709313
Favaloro EJ, Soltani S, McDonald J, Grezchnik E, Easton L, Favaloro JW
Am J Clin Pathol 2005 Dec;124(6):910-7. PMID: 16416741
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

Favaloro EJ, Bonar R, Kershaw G, Sioufi J, Thom J, Baker R, Hertzberg M, Street A, Lloyd J, Marsden K; Royal College Of Pathologists Of Australasia Quality Assurance Program In Haematology
Lab Hematol 2005;11(2):91-7. doi: 10.1532/LH96.04063. PMID: 16024332
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, Bonar R, Sioufi J, Hertzberg M, Street A, Lloyd J, Marsden K; RCPA Quality Assurance Program in Haematology Haemostasis Committee
Am J Clin Pathol 2003 Jun;119(6):882-93. doi: 10.1309/8WVA-NM7H-0DKT-GB9F. PMID: 12817437
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

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. [Epub ahead of print] 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. PMID: 11260278

Prognosis

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. PMID: 12172459
Favaloro EJ, Kershaw G, Bukuya M, Hertzberg M, Koutts J
Haemophilia 2001 Mar;7(2):180-9. PMID: 11260278

Clinical prediction guides

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. PMID: 12172459
Favaloro EJ, Kershaw G, Bukuya M, Hertzberg M, Koutts J
Haemophilia 2001 Mar;7(2):180-9. PMID: 11260278

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