Disease Profile

Acquired Von Willebrand syndrome

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of Onset

Adult

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ICD-10

D68.4

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other Names (AKA)

Willebrand disease, acquired; Acquired Von Willebrand disease

Categories

Blood Diseases

Summary

Acquired von Willebrand syndrome (AVWS) is a bleeding disorder that can occur due to a variety of conditions, but is not caused by a VWF gene mutation. It is most often seen in persons over age 40 years with no prior bleeding history. This condition may result from lymphoproliferative disorders, autoimmune disorders (including systemic lupus erythrematosus, scleroderma, and antiphospholipid antibody syndrome), heart conditions such as aortic valvular stenosis, increased blood platelet count such as essential thrombocythemia, and certain drugs.[1] About 300 cases of this condition have been reported in the medical literature thus far. Treatment depends on the underlying cause of the condition.[2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abnormality of cardiovascular system morphology
0030680
Hematological neoplasm
0004377
Impaired ristocetin cofactor assay activity
0030129
Prolonged prothrombin time
0008151
Reduced factor VIII activity
0003125
Reduced von Willebrand factor activity
0008330
5%-29% of people have these symptoms
Aortic regurgitation
0001659
Aortic valve stenosis
Narrowing of aortic valve
0001650
Asthenia
0025406
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising

[ more ]

0000978
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed

[ more ]

0000421
Gastrointestinal angiodysplasia
0000471
Hematuria
Blood in urine
0000790
Hypochromic anemia
0001931
Hypotension
Low blood pressure
0002615
Joint hemorrhage
Bleeding within a joint
Hemarthrosis

[ more ]

0005261
Melena
0002249
Menorrhagia
Abnormally heavy bleeding during menstruation
0000132
Metrorrhagia
Abnormal uterus bleeding
0100608
Mitral regurgitation
0001653
Normocytic anemia
0001897
Persistent bleeding after trauma
Excessive bleeding after minor trauma
Frequent bleeding with trauma
Prolonged bleeding after minor trauma

[ more ]

0001934
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Refractory anemia
0005505
1%-4% of people have these symptoms
Intracranial hemorrhage
Bleeding within the skull
0002170

Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • The National Hemophilia Foundation Web site posts the guidelines for management of pregnancy and delivery of women with bleeding disorders and carriers of hemophilia A and B. Click on the link to view the guidelines.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn More

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • Genetics Home Reference (GHR) contains information on Acquired Von Willebrand syndrome. This website is maintained by the National Library of Medicine.

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Acquired Von Willebrand syndrome. Click on the link to view a sample search on this topic.

          References

          1. Goodeve A & James P. von Willebrand Disease. GeneReviews. 2014; https://www.ncbi.nlm.nih.gov/books/NBK7014/#von-willebrand.Differential_Diagnosis.
          2. Acquired Von Willebrand syndrome. Orphanet. October 2008; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99147. Accessed 9/15/2011.