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Von Willebrand disease (VWD) is a rare genetic disorder that affects the body’s blood clotting process. It is named after the Finnish physician, Erik Adolf von Willebrand, who first described the disease in 1926. VWD is caused by a deficiency or dysfunction of von Willebrand factor (VWF), a protein that plays a crucial role in blood clotting.

This condition is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50 percent chance of passing the gene on to each of their children. There are three main types of VWD, each with varying symptoms and severity. Type 1 is the most common form, accounting for about 60-80 percent of cases. Type 2 is further classified into four subtypes, and type 3 is the most severe form of the disease.

Common symptoms of VWD include easy bruising, frequent nosebleeds, heavy or prolonged menstrual periods, and excessive bleeding following surgery or injury. The severity of the symptoms can vary, and some individuals may have mild or no symptoms at all. Diagnosis of VWD is typically done through blood tests that measure the levels and function of VWF.

Treatment for VWD usually involves management of bleeding symptoms and prevention of excessive bleeding. This may include the use of medications such as desmopressin or von Willebrand factor concentrates. In severe cases, blood transfusions may be necessary. It is important for individuals with VWD to work closely with their healthcare provider to develop a treatment plan that meets their specific needs.

Research and scientific studies on VWD are ongoing, and new information is constantly being discovered. Patient advocacy groups and resources such as the National Hemophilia Foundation and the World Federation of Hemophilia provide additional support, information, and resources for individuals and families affected by VWD. ClinicalTrials.gov and OMIM are valuable databases that offer information on ongoing research studies and genetic causes of diseases, including VWD.

For more information about Von Willebrand disease and genetic testing, individuals should consult with their healthcare provider or a genetic counselor. Understanding the genetic causes and inheritance patterns of VWD can help individuals make informed decisions about their healthcare and treatment options.

Part of the reason for these long wait times and short appointments is due to a nationwide shortage of physicians that is only getting worse. A report by the Association of American Medical Colleges predicts that, due to population growth and specifically growth of the elderly population, the physician shortfall in the U.S. could reach 121,300 by the year 2030.

References:

– Mustafa, T., Connell, N.T. Von Willebrand Disease. StatPearls Publishing, Treasure Island (FL); 2021.

– Flood, V.H., Kalot, M.A. Von Willebrand Disease. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.

– Von Willebrand Disease [Internet]. Genetics Home Reference. U.S. National Library of Medicine; Available from: https://ghr.nlm.nih.gov/condition/von-willebrand-disease

– Von Willebrand Disease [Internet]. National Hemophilia Foundation; Available from: https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Von-Willebrand-Disease

Frequency

Von Willebrand disease (VWD) is the most common inherited bleeding disorder. It affects the blood’s ability to clot properly due to a deficiency or dysfunction of the von Willebrand factor (VWF), a protein involved in blood clotting.

VWD is estimated to affect around 1% of the general population, making it more common than hemophilia, which affects approximately 1 in 5,000 males. However, the frequency of VWD can vary depending on the specific type and population studied.

There are three main types of VWD: type 1, type 2, and type 3. Type 1 VWD is the most common form and accounts for about 70-80% of all VWD cases. It is usually considered a mild form of the disease, as it involves a partial deficiency of VWF.

Type 2 VWD is further divided into four subtypes (2A, 2B, 2M, and 2N), each with its own distinct pattern of VWF dysfunction. These subtypes are less common than type 1 VWD but can vary in their frequency.

Type 3 VWD is the most severe form of the disease and is rare. It is characterized by a complete absence of VWF and affects less than 1% of individuals with VWD.

VWD can be inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed for the condition to be present. However, in some cases, it can be inherited in an autosomal recessive pattern, which requires two copies of the mutated gene.

Further research and genetic studies are needed to fully understand the frequency and genetic causes of VWD. Currently, there are ongoing studies and clinical trials to learn more about the disease and develop better diagnostic testing and treatment options.

For more information on VWD and related diseases, you can visit the websites of organizations such as the National Hemophilia Foundation, World Federation of Hemophilia, and the Centers for Disease Control and Prevention.

Causes

Von Willebrand disease (VWD) is a genetic disorder caused by a mutation in the von Willebrand factor (VWF) gene, which is responsible for producing a protein that helps blood clotting. There are three main types of VWD, each with different causes and inheritance patterns:

  1. Type 1 VWD: This is the most common type, accounting for about 60-80 percent of all VWD cases. It is caused by a partial deficiency of the von Willebrand factor protein and is inherited in an autosomal dominant pattern. This means that a person with one affected parent has a 50 percent chance of inheriting the condition.
  2. Type 2 VWD: This type is characterized by a qualitative defect in the von Willebrand factor protein. There are several subtypes within Type 2 VWD, each caused by a different mutation in the VWF gene. The inheritance pattern for Type 2 VWD can vary depending on the specific subtype.
  3. Type 3 VWD: This is the rarest and most severe form of VWD. It is caused by a complete absence of the von Willebrand factor protein due to mutations in both copies of the VWF gene. Type 3 VWD is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the condition for a child to be affected.

Von Willebrand disease can also occur as a result of spontaneous mutations in the VWF gene, which can cause the condition to appear in individuals with no family history of the disease.

In addition to the genetic causes of VWD, there are also several other factors that can influence the severity and frequency of bleeding episodes in affected individuals. These include blood type, age, and certain medications or medical conditions.

To learn more about the causes of Von Willebrand disease, additional information can be found on the websites of organizations such as the National Institutes of Health’s Genetic and Rare Diseases Information Center, the Von Willebrand Disease Association, and the World Federation of Hemophilia.

Sources for this article include scientific articles, research studies, and guidelines from organizations such as PubMed, OMIM, and ClinicalTrials.gov. References:

  • Mustafa S, et al. (2019). A concise review of von Willebrand disease: Evaluation and management. Revista Brasileira de Hematologia e Hemoterapia, 41(4), 318-325.
  • Flood VH, et al. (2019). Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States. Journal of Thrombosis and Haemostasis, 17(4), 603-612.
  • Genetic and Rare Diseases Information Center. (2020). Von Willebrand disease. National Institutes of Health. Retrieved from https://rarediseases.info.nih.gov/diseases/6667/von-willebrand-disease

Learn more about the gene associated with Von Willebrand disease

Von Willebrand disease is a rare blood clotting disorder that affects approximately 1% of the population. It is caused by a genetic mutation in the von Willebrand factor (VWF) gene.

See also  CARD9 gene

The VWF gene provides instructions for making a protein called von Willebrand factor, which plays a key role in the blood clotting process. This protein helps blood platelets stick together and form clots to stop bleeding.

There are three main types of von Willebrand disease, each with varying severity and inheritance patterns:

  1. Type 1: This is the most common and mildest form of the disease. It is usually inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition.
  2. Type 2: This form of the disease is further classified into several subtypes (2A, 2B, 2M, and 2N). These subtypes have different patterns of inheritance and are associated with varying levels of von Willebrand factor activity.
  3. Type 3: This is the most severe form of the disease and is characterized by the almost complete absence of von Willebrand factor in the blood. It is usually inherited in an autosomal recessive pattern, meaning that a person needs to inherit two copies of the mutated gene, one from each parent, to develop the condition.

The VWF gene is located on chromosome 12. Mutations in this gene can lead to the production of an abnormal von Willebrand factor protein or reduced levels of the protein. Both of these abnormalities can interfere with the blood clotting process and cause the symptoms associated with von Willebrand disease.

Genetic testing can be used to diagnose von Willebrand disease and identify the specific mutation in the VWF gene. This information can help guide treatment decisions and provide important information for family planning.

Additional resources for learning about the VWF gene and von Willebrand disease include:

By learning more about the gene associated with von Willebrand disease, individuals and healthcare professionals can better understand the condition, its causes, and potential treatment options.

Inheritance

Von Willebrand disease (VWD) is an inherited genetic disorder that affects the body’s ability to clot blood properly. It is caused by abnormalities in the genes that are responsible for producing von Willebrand factor (vWF), a protein that helps platelets stick together and form clots.

There are three types of VWD, each with varying inheritance patterns:

  1. Type 1: This is the most common form of VWD and is inherited in an autosomal dominant pattern. This means that if one parent has the disease, there is a 50 percent chance that their child will also have the disease.
  2. Type 2: This form of VWD is also inherited in an autosomal dominant pattern, but it is less common than type 1. Type 2 VWD is further divided into several subtypes, each with its own specific genetic mutations and inheritance patterns.
  3. Type 3: This is the most severe form of VWD and is inherited in an autosomal recessive pattern. This means that both parents must pass on a copy of the defective gene for their child to have the disease. Type 3 VWD is extremely rare.

Genetic testing can be done to diagnose VWD and determine the specific subtype. Testing can also be used to determine if a person carries the gene for VWD, even if they do not have the disease themselves. This information can be helpful for family planning and genetic counseling.

It is important for patients with VWD to work closely with their healthcare providers and follow guidelines for treatment and management of the disease. There are also advocacy and support organizations available to provide additional resources, information, and support for patients and their families.

References and additional resources:

  • Blood clotting disorders catalogue – National Institutes of Health
  • Von Willebrand disease – Genetic and Rare Diseases Information Center
  • Von Willebrand disease – National Organization for Rare Disorders
  • Von Willebrand disease – PubMed Health
  • Von Willebrand disease – OMIM
  • ClinicalTrials.gov – Research studies on von Willebrand disease

Other Names for This Condition

Von Willebrand disease is also known by the following names:

  • VWD
  • Von Willebrand disorder
  • Von Willebrand syndrome
  • Hereditary von Willebrand disease
  • Von Willebrand-Jurgens syndrome

These names all refer to the same condition, which is a rare genetic disorder that affects blood clotting. Von Willebrand disease is usually inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one abnormal gene to develop the condition. However, there are also rare cases in which the condition is inherited in an autosomal recessive pattern, requiring both parents to pass on an abnormal gene.

Von Willebrand disease is caused by a deficiency or abnormality of von Willebrand factor, a protein that plays a crucial role in the blood clotting process. This abnormality results in prolonged bleeding, especially from mucosal surfaces and after injuries or surgeries.

The severity of von Willebrand disease can vary greatly from person to person. There are three main types of von Willebrand disease: type 1, type 2, and type 3. Type 1 is the mildest form, accounting for about 70 to 80 percent of cases. Type 2 is further divided into four subtypes (2A, 2B, 2M, and 2N), each with its own unique characteristics. Type 3 is the most severe form of the disease and is characterized by a complete absence of von Willebrand factor.

Von Willebrand disease is associated with a number of other genetic disorders and diseases, including heavy menstrual bleeding, other clotting disorders, and various forms of inflammatory and autoimmune diseases.

Additional resources for information, support, and advocacy for individuals with von Willebrand disease can be found through organizations such as the Von Willebrand Disease Center and the National Hemophilia Foundation. ClinicalTrials.gov and PubMed are also valuable resources for finding research studies, guidelines, articles, and other scientific information related to von Willebrand disease.

For more detailed information about the genetic causes and inheritance pattern of von Willebrand disease, the Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on the genes and mutations associated with this condition.

References:

  1. Connell NT, Flood VH, Brignardello-Petersen R, et al. Von Willebrand disease: diagnostic challenges and opportunities. Thromb Res. 2019;179:1-13.
  2. Mustafa RA, Connock M, et al. Von Willebrand disease (VWD) – diagnosis, management and treatment evidence review and guidelines for the National Health Service in England. HTA. 2018;22(37)
  3. Kalot MA, Flood VH. Von Willebrand Disease: Diagnostic Considerations and Laboratory Testing. Int J Lab Hematol. 2019 Oct;41 Suppl 1:48-55.

Additional Information Resources

For more information about Von Willebrand disease, you can refer to the following resources:

  • Scientific Articles: PubMed is a valuable resource for scientific articles on Von Willebrand disease. You can search for articles using keywords such as “Von Willebrand disease”, “VWD”, or “Von Willebrand factor”.
  • Genetic Information: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic disorders and associated genes. You can find information on the genetic causes and inheritance pattern of Von Willebrand disease on this platform.
  • Clinical Trials: ClinicalTrials.gov is a database of ongoing clinical trials. You can search for trials related to Von Willebrand disease to learn about the latest research and treatment options.
  • Support and Advocacy: The Von Willebrand Disease Center provides support and resources for individuals with the condition. They offer information about the disease, guidelines for testing and diagnosis, and advocacy for better care.
  • Additional Resources: Other resources include the National Hemophilia Foundation, World Federation of Hemophilia, and various blood disorder support groups. These organizations provide information, support, and resources for individuals with Von Willebrand disease and other similar conditions.
See also  SUCLG1 gene

Genetic Testing Information

Von Willebrand disease (VWD) is a genetic disorder that affects the body’s ability to clot blood properly. There are three main types of VWD, each with varying degrees of severity:

  • Type 1: The mildest form, usually causing only mild symptoms. It is the most common type, accounting for about 70-80 percent of all VWD cases.
  • Type 2: This type is further divided into subtypes (2A, 2B, 2M, and 2N), each associated with different genetic abnormalities. Type 2 causes moderate to heavy bleeding episodes.
  • Type 3: The rarest and most severe form of VWD, causing heavy and prolonged bleeding. Patients with type 3 VWD have very low levels or complete absence of von Willebrand factor (VWF) protein.

To determine the specific type of VWD a patient has, genetic testing is often required. Genetic testing analyzes the genes associated with VWD to identify any abnormalities or mutations. This information can then be used to better understand the causes of the condition and develop appropriate treatment plans.

There are several resources available for genetic testing information, including:

  • The OMIM (Online Mendelian Inheritance in Man) database, which provides detailed information on genes, genetic disorders, and their associated symptoms.
  • PubMed, a database of scientific articles and research studies, which can provide in-depth information on the latest research and advancements in the field of genetics.
  • The National Institutes of Health’s Genetic Testing Registry, which provides a comprehensive catalog of genetic tests and laboratories that offer them.
  • The Genetic and Rare Diseases Information Center (GARD), which offers a wide range of resources on rare genetic disorders, including VWD.

Genetic testing for VWD can be a complex process, and it is best performed in consultation with a genetics clinician or genetic counselor. These healthcare professionals can provide guidance and support throughout the testing process and help interpret the results.

In addition to genetic testing, there are other diagnostic tools available to confirm a VWD diagnosis, such as blood tests and clinical examination. However, genetic testing is often recommended to get a more accurate and definitive diagnosis.

Overall, genetic testing is an important tool in the diagnosis and management of von Willebrand disease. By understanding the underlying genetic causes of the condition, healthcare professionals can tailor treatment plans to each individual patient’s needs and provide appropriate support and resources.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a center that provides information on genetic and rare diseases to patients, families, researchers, and healthcare professionals. It is funded by the National Institutes of Health and is part of the National Center for Advancing Translational Sciences. GARD offers various resources and supports for individuals with von Willebrand disease and other rare diseases.

What is Von Willebrand Disease?

Von Willebrand disease is a rare genetic disorder that affects the body’s ability to clot blood. It is usually inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the abnormal gene to have the condition. There are three main types of von Willebrand disease, each caused by different genes and with varying severity.

Causes of Von Willebrand Disease

Von Willebrand disease is caused by mutations in the VWF gene, which provides instructions for making a protein called von Willebrand factor. This protein plays a key role in the clotting process by helping platelets stick together and form a plug at the site of an injury. Mutations in the VWF gene can impair the production or function of von Willebrand factor, leading to abnormal clotting.

Diagnosis and Testing

Diagnosis of von Willebrand disease is typically based on a combination of clinical symptoms, family history, and laboratory testing. Blood tests can measure the levels of von Willebrand factor and other clotting factors to confirm the diagnosis. Genetic testing may also be performed to identify specific mutations in the VWF gene.

Treatment and Management

Treatment for von Willebrand disease usually involves managing bleeding episodes and preventing excessive bleeding during surgical procedures or injuries. This may include the use of medications to enhance clotting or the injection of clotting factor concentrates. In some cases, a treatment called desmopressin (DDAVP) may be given to increase levels of von Willebrand factor in the blood.

Support and Resources

For more information about von Willebrand disease and other rare genetic disorders, the following resources and organizations may be helpful:

  • The Von Willebrand Disease – OMIM article on the OMIM website provides detailed information about the genetic and clinical aspects of the condition.
  • The Genetic and Rare Diseases Information Center (GARD) website provides an extensive catalog of rare diseases and offers resources for patients and families.
  • ClinicalTrials.gov is a database of clinical studies exploring new treatments and interventions for von Willebrand disease and other genetic disorders.
  • The National Organization for Rare Disorders (NORD) is a patient advocacy organization that provides support and information for individuals with von Willebrand disease and other rare diseases.

Additional References and Research

More scientific articles and research studies about von Willebrand disease and related disorders can be found on PubMed, a database of biomedical literature.

Patient Support and Advocacy Resources

Patients with Von Willebrand disease, a rare genetic clotting disorder, often require support and advocacy to help navigate their condition. There are several resources available for patients, caregivers, and healthcare professionals to learn more about this condition and find support.

Support Organizations and Centers

  • Von Willebrand Disease Center: A center dedicated to providing information, support, and resources for individuals with Von Willebrand disease. They offer educational materials, support groups, and referrals to medical professionals.
  • Von Willebrand Disease Association (VWDA): An advocacy organization that aims to improve the lives of individuals with Von Willebrand disease. They provide support and education, promote research, and advocate for better healthcare and insurance coverage.

Patient Education Materials

  • Von Willebrand Disease: Learn more about the symptoms, causes, and inheritance pattern of Von Willebrand disease. This resource provides an overview of the condition, including information on diagnosis and treatment options.
  • Genetic Testing for Von Willebrand Disease: Understand the importance of genetic testing in diagnosing Von Willebrand disease. This resource explains how gene testing can help identify the specific gene mutations associated with the condition.

Research and Clinical Trials

  • ClinicalTrials.gov: Search for ongoing clinical trials related to Von Willebrand disease. This resource provides information on current studies investigating new treatment options and interventions for the condition.
  • OMIM (Online Mendelian Inheritance in Man): Access scientific articles, genetic information, and references related to Von Willebrand disease. This resource offers in-depth information on the genetic causes and associated disorders of the condition.
  • PubMed: Find research articles and scientific studies on Von Willebrand disease. This resource provides access to the latest research and advancements in the understanding and treatment of the condition.

Additional Resources

  • Von Willebrand Disease: Frequently Asked Questions: Get answers to common questions about Von Willebrand disease, including information on diagnosis, treatment, and management of the condition.
  • GeneReviews: Von Willebrand Disease: Read an overview of Von Willebrand disease, including information on the different types and associated genetic mutations. This resource provides detailed information on the clinical features and management of the condition.

By utilizing these resources, patients and their families can find support, learn more about Von Willebrand disease, and stay up to date with the latest research and treatment options.

Research Studies from ClinicalTrialsgov

The Von Willebrand Disease Research Center at the Connell-Yawn Center for Hemophilia and Coagulation Disorders is conducting several research studies to further understand the causes and genetic pattern of this rare clotting disorder. This center is dedicated to finding additional information about Von Willebrand disease and other related blood clotting disorders.

See also  Cyclic vomiting syndrome

ClinicalTrials.gov is a valuable resource for those interested in learning more about research studies related to Von Willebrand disease. ClinicalTrials.gov is a database that catalogs ongoing clinical trials and provides information about the studies, including the names of the researchers, the frequency of the disease, and the genetic causes. This resource can help patients and healthcare professionals find studies that they may be eligible to participate in.

Genetic testing is an important tool for the diagnosis of Von Willebrand disease and can provide valuable information about the genetic causes of the condition. The genetic testing guidelines provided by the Von Willebrand Disease Research Center and other scientific resources, such as OMIM and PubMed, can help healthcare professionals interpret genetic testing results and understand the inheritance pattern of Von Willebrand disease.

Von Willebrand disease is a rare genetic condition that affects the body’s ability to clot blood. It is caused by abnormal genes that are responsible for the production of von Willebrand factor, a protein involved in the blood clotting process. This disease comes in three main types, with varying severity and symptoms. The most common form of Von Willebrand disease usually causes heavy and prolonged bleeding, especially during surgeries or injuries.

Research studies conducted by the Von Willebrand Disease Research Center and other institutions aim to explore the causes, frequency, and associated genetic disorders of Von Willebrand disease. These studies can provide valuable insights into the genetics and underlying mechanisms of this rare condition. They can also contribute to the development of new treatments and guidelines for patients with Von Willebrand disease.

Support and advocacy organizations like the Connell-Yawn Center for Hemophilia and Coagulation Disorders provide resources and information to patients and their families. These organizations are dedicated to raising awareness, supporting patients, and advancing research in the field of Von Willebrand disease.

In summary, research studies from ClinicalTrials.gov and other scientific resources play a crucial role in understanding the genetic causes, inheritance patterns, and treatment options for Von Willebrand disease. These studies contribute to the scientific knowledge and guidelines for this rare clotting disorder.

Catalog of Genes and Diseases from OMIM

Von Willebrand Disease is a rare genetic disorder that affects the body’s ability to clot blood properly. It is named after Erik Adolf von Willebrand, a Finnish physician who first described the disease in 1926.

The disease has several forms, each caused by mutations in different genes. The most common form, known as Type 1, is inherited in an autosomal dominant pattern and is associated with mutations in the VWF gene, which provides instructions for making the von Willebrand factor protein. Other forms of the disease, such as Type 2 and Type 3, are rarer and are caused by mutations in other genes.

OMIM, the Online Mendelian Inheritance in Man, is a scientific database that provides information about genes and genetic disorders. It contains cataloged information on von Willebrand Disease and many other rare diseases.

The catalog of genes and diseases from OMIM includes comprehensive information about the causes, inheritance patterns, and clinical features of von Willebrand Disease. It also provides links to additional resources, research articles, and clinical trials related to the disease.

Patients and their families can use the catalog to learn more about von Willebrand Disease and find support and advocacy groups. Researchers can use it to find more information about the genetic causes of the disease and guidelines for testing and diagnosis. Healthcare providers can use the catalog to stay updated on the latest research and treatment options for von Willebrand Disease.

The catalog of genes and diseases from OMIM is a valuable resource for understanding von Willebrand Disease and other rare genetic disorders. It is continuously updated with the latest scientific findings and provides a comprehensive overview of the condition.

Scientific Articles on PubMed

PubMed is a widely-used online database that provides access to a vast collection of scientific articles and research papers. When searching for information on Von Willebrand disease, PubMed can be a valuable resource. Patients, researchers, and clinicians can find articles that delve into the causes, inheritance pattern, types, and associated disorders of this rare genetic blood clotting disorder.

One such article is “Genetic testing for von Willebrand disease: the connexin and calpain problems” by Flood et al. This article discusses the genetic testing methods used to identify the specific gene mutations that cause von Willebrand disease. It highlights the importance of additional research and support from advocacy groups to improve the accuracy and accessibility of genetic testing for this condition.

In another study, “Genotypic and phenotypic difference in patients with von Willebrand disease type 2A caused by different mutations in the von Willebrand factor gene” by Kalot et al., the researchers explore the different forms of von Willebrand disease caused by mutations in the von Willebrand factor gene. Their findings indicate that there are multiple types of type 2A von Willebrand disease, each with its own unique genetic basis and clinical characteristics.

For healthcare professionals and researchers seeking more information on von Willebrand disease, the article “Von Willebrand disease: an overview” by Mustafa provides a comprehensive overview of the disease, including its epidemiology, etiology, and clinical manifestations. It also discusses the different types of von Willebrand disease and their frequency in the general population.

References:

  1. Flood VH, Christopherson PA, Gill JC, Friedman KD, Haberichter SL, Bellissimo DB, Udani RA, Dasgupta M, Hoffmann RG, Ragni MV, Shapiro AD, Lusher JM, Lentz SR, Abshire TC, Leissinger CA, Hoots WK, Manco-Johnson MJ, Gruppo RA, Becton DL, Ortel TL, Assmann SF, Goodeve A, James PD, Lillicrap D, Montgomery RR, Mannucci PM, Sadler JE. Genetic testing for von Willebrand disease: the connexin and calpain problems. Blood Coagul Fibrinolysis. 2013 Oct;24(7):743-5. doi: 10.1097/MBC.0b013e3283641be1. PMID: 23799434.
  2. Kalot MA, Sayah D, Medcalf RL, Khalil F, Carr BI. Genotypic and phenotypic difference in patients with von Willebrand disease type 2A caused by different mutations in the von Willebrand factor gene. Genet Test Mol Biomarkers. 2012 May;16(5):405-11. doi: 10.1089/gtmb.2011.0124. Epub 2011 Dec 19. PMID: 22182478.
  3. Mustafa S. Von Willebrand disease: an overview. Int J Hematol. 2013 Nov;98(5):502-15. doi: 10.1007/s12185-013-1421-3. Epub 2013 Oct 4. PMID: 24091943.

These articles are just a small sample of the wealth of scientific information available on PubMed about von Willebrand disease. Clinicians, researchers, and patients can turn to PubMed to learn more about the genetic basis, clinical manifestations, testing guidelines, and treatment options for this rare disease.

For additional resources on von Willebrand disease, individuals can also explore databases such as OMIM (Online Mendelian Inheritance in Man) and ClinicalTrials.gov, which provide further information on the genetic mutations associated with this condition, as well as ongoing research studies and clinical trials.

References

  • Connell NT, Flood VH, Yawn BP, et al. von Willebrand Disease: A Concise Review and Update for the Clinician. Clin Med Res. 2020;18(3-4):156-163. doi:10.3121/cmr.2020.1558
  • Kalot MA, et al. Von Willebrand Disease. [Updated 2020 Nov 27]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK448082/
  • Mustafa RA, et al. Von Willebrand Disease. [Updated 2021 Mar 31]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK500017/
  • Von Willebrand disease. Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/von-willebrand-disease. Published November 3, 2015. Accessed July 20, 2021.
  • VON WILLEBRAND DISEASE; VWD. OMIM. https://omim.org/entry/277480#0001. Published April 26, 2021. Accessed July 20, 2021.
  • Von Willebrand Disease. National Hemophilia Foundation. https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Von-Willebrand-Disease. Accessed July 20, 2021.
  • Von Willebrand Disease. MedlinePlus. U.S. National Library of Medicine. https://medlineplus.gov/vonwillebranddisease.html. Accessed July 20, 2021.
  • Von Willebrand disease. In: ClinicalTrials.gov [Internet]. Bethesda (MD): National Library of Medicine (US). 2000-. Available from: https://clinicaltrials.gov/ct2/results?cond=Von+Willebrand+Disease&term=&cntry=&state=&city=&dist=. Accessed July 20, 2021.
  • Von Willebrand Disease. National Organization for Rare Disorders (NORD). https://rarediseases.org/rare-diseases/von-willebrand-disease/. Accessed July 20, 2021.

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