Rare Nephrology News

Disease Profile

Von Willebrand disease

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

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ICD-10

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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)

VWD; Von Willebrand factor, deficiency; Hereditary von Willebrand disease

Categories

Blood Diseases

Summary

Von Willebrand disease is a bleeding disorder that slows the blood clotting process. People with this disease often experience bruising, nosebleeds, and prolonged bleeding or oozing following an injury, affer surgery, or having a tooth pulled. Affected women may have heavy menstrual bleeding. In severe cases, heavy bleeding occurs after minor injury or even in the absence of injury. It is divided into three types. Type 1 is the mildest and most common, and type 3 is the most severe and rarest form. Type 2 (four subtypes) is intermediate in severity. Increased age, pregnancy, exercise, and stress may cause von Willebrand factor levels in the blood to rise, which can make bleeding symptoms less frequent. This disease is caused by mutations in the VWF gene and can have different inheritance patterns.[1] Treatment varies according to the severity of the disease and includes plasma-derived clotting factor concentrates, and other medications.[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
80%-99% of people have these symptoms
Abnormal platelet function
0011869
Abnormality of coagulation
0001928
30%-79% of people have these symptoms
Abnormal mitral valve morphology
0001633
5%-29% of people have these symptoms
Deviation of finger
Atypical position of finger
Finger pointing in a different direction than usual

[ more ]

0004097
Venous insufficiency
Poorly functioning veins
0005293

Cause

Von Willebrand disease is typically an inherited disease caused by variations (mutations) in the VWF gene. The VWF gene provides instructions for making a blood clotting protein called von Willebrand factor, which is important for forming blood clots and preventing further blood loss after an injury. If von Willebrand factor does not function normally or too little of the protein is available, blood clots cannot form properly. VWF gene mutations that reduce the amount of von Willebrand factor or cause the protein to function abnormally (or not at all) are responsible for the signs and symptoms associated with the condition. These variations may be inherited in an autosomal dominant or autosomal recessive manner, or may occur for the first time in the affected person without any other cases in the family. (known as a de novo mutation).[3]

There is another condition, called acquired von Willebrand syndrome (AVWS) that is not caused by gene mutations, and is not inherited. This condition may be part of other disorders and usually begins in adulthood.[3] A list of disorders associated with AVWS is available from UpToDate.[4]

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.
  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
  • The National Heart, Blood and Lung Institute (NHLBI) assembled a panel of experts on von Willebrand to develop clinical management guidelines. To view the guidelines, click on the link.

    FDA-Approved Treatments

    The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

    • Antihemophilic factor (human)(Brand name: Alphanate®) Manufactured by Grifols Biologicals Inc.
      FDA-approved indication: For surgical and/or invasive procedures in patients with von Willebrand Disease (VWD) in whom desmopressin is either ineffective or contraindicated. It is not indicated for patients with severe VWD (Type 3) undergoing major surgery
      National Library of Medicine Drug Information Portal
      Medline Plus Health Information
    • Antihemophilic factor/von Willebrand factor complex (human), dried, pasteurized(Brand name: Humate-P) Manufactured by CSL Behring, LLC
      FDA-approved indication: (1) In adult patients for treatment and prevention of bleeding in hemophilia A (classic hemophilia) and (2) in adult and pediatric patients for treatment of spontaneous and trauma-induced bleeding episodes in severe von Willebrand disease, and in mild and
      National Library of Medicine Drug Information Portal
    • Desmopressin acetate(Brand name: Stimate) Manufactured by CSL Behring, LLC
      FDA-approved indication: March 1994, desmopressin acetate (Stimate) was approved for the treatment of patients with hemophilia A or von Willebrand's disease (type I) whose factor VIII coagulant activity level is greater than 5%.
      National Library of Medicine Drug Information Portal
      Medline Plus Health Information
    • Recombinant von Willebrand factor (rhVWF)(Brand name: Vonvendi) Manufactured by Baxalta US, Inc.
      FDA-approved indication: April 2018 approved for use in adults (age 18 and older) diagnosed with von Willebrand disease (VWD) for perioperative management of bleeding. December 2015 approved for use for on-demand treatment and control of bleeding episodes in adults diagnosed with von Willebrand disease (VWD).
      National Library of Medicine Drug Information Portal
    • Human Plasma Coagulation Factor VIII And Human Plasma Von Willebrand Factor(Brand name: Wilate(R)) Manufactured by Octapharma USA, Inc.
      FDA-approved indication: Treatment of spontaneous or trauma-induced bleeding episodes in patients with severe von Willebrand disease (VWD) as well as patients with mild or moderate VWD in whom the use of desmopressin is known or suspected to be ineffective or contraindicated
      National Library of Medicine Drug Information Portal

    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

      • You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • Genetics Home Reference (GHR) contains information on Von Willebrand disease. This website is maintained by the National Library of Medicine.
      • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
      • The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • 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 Von Willebrand disease. Click on the link to view a sample search on this topic.

          References

          1. Von Willebrand disease. Genetics Home Reference. 2012; https://ghr.nlm.nih.gov/condition/von-willebrand-disease.
          2. Goodeve A & James P. von Willebrand Disease. GeneReviews. 2014; https://www.ncbi.nlm.nih.gov/books/NBK7014/#von-willebrand.Differential_Diagnosis.
          3. Von Willebrand disease. Genetics Home Reference. 2012; https://ghr.nlm.nih.gov/condition/von-willebrand-disease.
          4. Margaret E Rick. Classification and pathophysiology of von Willebrand disease. UpToDate. Waltham, MA: UpToDate, Inc; 2012;
          5. Goodeve A & James P. von Willebrand Disease. GeneReviews. 2014; https://www.ncbi.nlm.nih.gov/books/NBK7014/.

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