Von Willebrand Disease
Basics
Description
Description
- Coagulopathy caused by deficiency or dysfunction of von Willebrand factor (vWF)
- vWF functions:
- Mediates platelet–endothelial cell adhesion
- Carrier protein for factor VIII
- Prevalence as high as 1–2% in the general population
- Genetics:
- Most cases inherited – multiple genetic defects identified
- Type 1 – quantitative defect of vWF:
- 75% of cases
- Autosomal dominant
- vWF deficiency results from decreased synthesis and increased clearance of protein
- Manifestation ranges from asymptomatic to moderate bleeding
- Type 2 – qualitative defect of vWF:
- 10–20% of cases
- Divided into types 2A, 2B, 2M, 2N
- 2A(10–15% of cases) and 2M are either autosomal dominant or recessive
- 2B(5% of cases) is autosomal dominant
- 2N is autosomal recessive
- 2A, 2B, and 2M have decreased high molecular-weight multimers and decreased VWF activity
- 2N – Normal VWF activity, normal multimer electrophoresis, and decreased binding to factor VIII
- Leads to decreased levels of VIII (5–15%) and thus more serious coagulopathy
- Type 3 – absent or severe deficiency in amount of vWF:
- Rare disease – 1 per million cases
- Autosomal recessive
- Severe coagulopathy
- vWD genetically associated with sickle cell disease, hemophilia A, factor XII deficiency, hereditary hemorrhagic telangiectasia, and thrombocytopenia
Etiology
Etiology
- In addition to genetic causes, acquired forms exist
- Multiple mechanisms:
- vWF antibody production
- Decreased synthesis
- Proteolysis
- Increased clearance from binding to tumor cells
- Seen in association with the following:
- Malignancy:
- Wilms tumor
- Multiple myeloma
- Chronic lymphocytic leukemia
- Non-Hodgkin lymphoma
- Chronic myelogenous leukemia
- Waldenstrom macroglobulinemia
- Monoclonal gammopathy of uncertain significance
- Immunologic:
- Systematic lupus erythematosus
- Rheumatoid arthritis
- Medication induced:
- Valproic acid
- Ciprofloxacin
- Hetastarch
- Griseofulvin
- Miscellaneous:
- vWF is acute phase reactant with increased levels during adrenergic stimulation, inflammation, and exercise
- Hypothyroidism reduces plasma level of vWF
- Uremia
- Hemoglobinopathies
- Cirrhosis
- Congenital heart disease
- Disseminated intravascular coagulation
- Malignancy:
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Citation
Schaider, Jeffrey J., et al., editors. "Von Willebrand Disease." 5-Minute Emergency Consult, 6th ed., Lippincott Williams & Wilkins, 2020. Emergency Central, emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307243/0.1/Von_Willebrand_Disease.
Von Willebrand Disease. In: Schaider JJJ, Barkin RMR, Hayden SRS, et al, eds. 5-Minute Emergency Consult. Lippincott Williams & Wilkins; 2020. https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307243/0.1/Von_Willebrand_Disease. Accessed December 14, 2024.
Von Willebrand Disease. (2020). In Schaider, J. J., Barkin, R. M., Hayden, S. R., Wolfe, R. E., Barkin, A. Z., Shayne, P., & Rosen, P. (Eds.), 5-Minute Emergency Consult (6th ed.). Lippincott Williams & Wilkins. https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307243/0.1/Von_Willebrand_Disease
Von Willebrand Disease [Internet]. In: Schaider JJJ, Barkin RMR, Hayden SRS, Wolfe RER, Barkin AZA, Shayne PP, Rosen PP, editors. 5-Minute Emergency Consult. Lippincott Williams & Wilkins; 2020. [cited 2024 December 14]. Available from: https://emergency.unboundmedicine.com/emergency/view/5-Minute_Emergency_Consult/307243/0.1/Von_Willebrand_Disease.
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