Von Willebrand disease

Información en español Title

Not a rare disease

Other Names:

VWD; Von Willebrand factor, deficiency

Categories:

Blood Diseases

Summary 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]

Last updated: 2/21/2018

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormality of the genitourinary system		0000119
Aortic valve stenosis	Narrowing of aortic valve	0001650
Autosomal dominant inheritance		0000006
Bruising susceptibility	Bruise easily Easy bruisability Easy bruising [ more ]	0000978
Epistaxis	Bloody nose Frequent nosebleeds Nose bleeding Nosebleed [ more ]	0000421
Gastrointestinal angiodysplasia		0000471
Gastrointestinal hemorrhage	Gastrointestinal bleeding	0002239
Impaired platelet aggregation		0003540
Incomplete penetrance		0003829
Joint hemorrhage	Bleeding within a joint Hemarthrosis [ more ]	0005261
Menorrhagia	Abnormally heavy bleeding during menstruation	0000132
Mitral valve prolapse		0001634
Prolonged bleeding time		0003010
Prolonged whole-blood clotting time		0005542
Reduced factor VIII activity		0003125

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 5/1/2019

Do you have updated information on this disease? We want to hear from you.

Cause 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]

Last updated: 2/21/2018

Inheritance Inheritance

Most, but not all, cases of von Willebrand disease (VWD) are inherited. The majority of cases of type 1 and type 2A, as well as type 2B and type 2M, are inherited in an autosomal dominant manner. VWD type 2N, type 3, and some cases of type 1 and type 2A are inherited in an autosomal recessive manner.^[5]

Most individuals with an autosomal dominant type of VWD have an affected parent. However, some individuals are affected due to having a new (de novo) mutation in the VWF gene that occurred for the first time in the affected individual. If the mutation found in the affected individual cannot be detected in either parent, it is most often due to a de novo mutation but may also be due to germline mosaicism in a parent. Possible non-medical explanations which may be explored include alternate paternity or maternity (e.g., with assisted reproduction) or undisclosed adoption.^[5]

Another rare and different condition called acquired von Willebrand syndrome (AVWS). is a mild to moderate bleeding disorder that is typically seen in conjunction with other disorders, such as diseases that affect bone marrow or immune cell function. AVWS is not caused by a mutation in the VWF gene and usually begins in adulthood.^[5]^[3]

Last updated: 2/21/2018

Treatment 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

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
The Division of Blood Disorders at the Centers for Disease Control and Prevention has created specialized programs for persons with blood disorders and their families. One of the activities of the division involves the collaboration with networks of specialized health care centers throughout the United States. To locate treatment centers, organizations, and staff that are part of the federally funded network, click on the link.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Von Willebrand disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations 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

Canadian Hemophilia Society
301-666 Sherbrooke Street West
Montreal, QC H3A IE7
Canada
Toll-free: 1-800-668-2686
Telephone: +1-514-848-0503
Fax: +1-514-848-9661
E-mail: chs@hemophilia.ca
Website: https://www.hemophilia.ca
National Hemophilia Foundation
7 Penn Plaza, Suite 1204
New York, NY 10001
Toll-free: 1-800-42-HANDI
Telephone: +1-212-328-3700
Fax: +1-212-328-3777
E-mail: handi@hemophilia.org
Website: https://www.hemophilia.org/
World Federation of Hemophilia
1425 Rene Levesque Blvd. W.
Bureau 1200
Montreal, Quebec H3G 1T7
Canada
Telephone: +1-514-875-7944
Fax: +1-514-875-8916
E-mail: wfh@wfh.org
Website: https://www.wfh.org/en/

Do you know of an organization? We want to hear from you.

Learn More 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.
Genetics Home Reference (GHR) contains information on Von Willebrand disease. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
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.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

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