Summary about Disease
Von Willebrand disease (VWD) is the most common inherited bleeding disorder. It is caused by a defect or deficiency of von Willebrand factor (VWF), a protein that helps blood platelets clump together and stick to the blood vessel walls, which is necessary for normal blood clotting. This can lead to prolonged or excessive bleeding after injury, surgery, dental work, or during menstruation. VWD is typically a lifelong condition, but symptoms can be managed effectively with treatment.
Symptoms
Symptoms of VWD vary in severity and can include:
Easy bruising
Frequent or prolonged nosebleeds
Prolonged bleeding from cuts
Excessive bleeding after surgery or dental work
Heavy or prolonged menstrual periods (menorrhagia) in women
Bleeding gums
Blood in urine or stool (rare)
Increased bleeding after childbirth
Joint pain and swelling (if bleeding occurs into joints)
Causes
VWD is caused by a genetic defect that affects the production or function of von Willebrand factor (VWF). It is usually inherited from one or both parents. There are different types of VWD, each with a different genetic basis:
Type 1: The most common type, characterized by reduced levels of VWF.
Type 2: VWF is present, but it doesn't function properly. Subtypes include 2A, 2B, 2M, and 2N.
Type 3: The rarest and most severe type, characterized by a complete or near-complete absence of VWF.
Acquired VWD: This is a rare form that is not inherited and can develop later in life due to other medical conditions, such as autoimmune diseases, certain cancers, or medications.
Medicine Used
Treatment for VWD aims to prevent or stop bleeding episodes. Medications commonly used include:
Desmopressin (DDAVP): A synthetic hormone that stimulates the release of VWF from the cells where it is stored. It's effective for many people with mild to moderate Type 1 VWD and some subtypes of Type 2 VWD.
Von Willebrand Factor (VWF) Replacement Therapy: Concentrated VWF products derived from human plasma are used to replace the missing or dysfunctional VWF.
Antifibrinolytic Drugs: Such as tranexamic acid or aminocaproic acid, can help prevent the breakdown of blood clots. Often used to control bleeding after dental procedures or during menstruation.
Oral Contraceptives: Can help control heavy menstrual bleeding in women.
Topical Agents: Such as fibrin sealants or thrombin, can be used to stop bleeding from minor cuts.
Is Communicable
No, Von Willebrand disease is not communicable. It is a genetic disorder or, rarely, an acquired condition due to another underlying health issue. It cannot be spread from person to person through contact.
Precautions
People with VWD should take the following precautions:
Inform healthcare providers: Always inform doctors, dentists, and other healthcare providers about your VWD before any procedures.
Avoid certain medications: Avoid over-the-counter pain relievers like aspirin and ibuprofen, which can interfere with blood clotting.
Wear a medical alert bracelet or necklace: To inform emergency personnel about your condition in case of an accident.
Take extra care to prevent injuries: Minimize activities that could lead to bleeding.
Follow your doctor's treatment plan: Adhere to prescribed medications and monitoring.
How long does an outbreak last?
VWD is not an outbreak-related disease. It is a chronic condition. Bleeding episodes can last for varying durations depending on the severity of the VWD and the type of bleeding. The bleeding episode lasts until the issue causing the bleeding has stopped.
How is it diagnosed?
Diagnosis of VWD involves a combination of:
Medical History and Physical Exam: Assessing a person's bleeding history, including frequency, severity, and triggers.
Blood Tests:
VWF Antigen Level: Measures the amount of VWF in the blood.
VWF Activity (Ristocetin Cofactor Activity): Assesses how well VWF functions.
Factor VIII Level: Factor VIII works in conjunction with VWF, so its level is also measured.
VWF Multimers: Analyzes the structure and size of VWF molecules.
Platelet Function Tests: To rule out other bleeding disorders.
Genetic Testing: May be performed to identify the specific genetic mutation causing VWD.
Timeline of Symptoms
Symptoms of VWD can present at any age, but often become noticeable during:
Childhood: Easy bruising, frequent nosebleeds, prolonged bleeding from cuts.
Puberty (especially in females): Heavy menstrual bleeding.
Adulthood: Excessive bleeding after surgery, dental work, or childbirth. Symptoms may fluctuate in severity over time, and some individuals may have only mild symptoms that are not diagnosed until later in life. Some women aren't diagnosed until they experience heavy bleeding during menstruation or after childbirth.
Important Considerations
Genetic Counseling: Individuals with VWD should consider genetic counseling, especially if they plan to have children.
Personalized Treatment: Treatment should be tailored to the individual's type and severity of VWD.
Emergency Preparedness: People with VWD should have a plan in place for managing bleeding episodes and know when to seek medical attention.
Awareness and Education: Raising awareness of VWD among healthcare providers and the general public is crucial for timely diagnosis and appropriate management.
Avoid Blood Thinners: Extra care should be taken with taking other medications that thin the blood.