Summary about Disease
Von Willebrand disease (VWD) is a genetic bleeding disorder that affects the blood's ability to clot properly. This occurs because of a deficiency or dysfunction of von Willebrand factor (VWF), a protein that helps platelets stick together and carry clotting factor VIII. The severity of VWD can vary widely, from mild to severe, and some individuals may not even know they have it until they experience unusual bleeding.
Symptoms
Symptoms of VWD vary based on the type and severity of the deficiency. Common symptoms include:
Easy bruising
Frequent or prolonged nosebleeds
Heavy or prolonged menstrual periods (menorrhagia) in women
Prolonged bleeding after dental work, surgery, or injury
Bleeding from gums
Blood in the urine or stool (less common)
Causes
VWD is primarily caused by a genetic defect that affects the production or function of von Willebrand factor (VWF). There are several types of VWD, each with a different genetic basis:
Type 1: The most common type, characterized by reduced levels of VWF.
Type 2: Several subtypes exist, all involving a dysfunctional VWF protein.
Type 3: The rarest and most severe type, characterized by a complete absence of VWF. VWD is usually inherited, meaning it's passed down from parents to children. Acquired VWD is rare and can occur in people with certain underlying medical conditions like autoimmune diseases or some cancers.
Medicine Used
Treatment for VWD depends on the type and severity of the condition. Common medications include:
Desmopressin (DDAVP): A synthetic hormone that stimulates the release of VWF and factor VIII into the bloodstream. It's often used for mild to moderate Type 1 VWD.
Von Willebrand Factor Concentrate: A purified preparation of VWF derived from human plasma. It's used to treat Type 3 VWD and some cases of Type 2 VWD.
Antifibrinolytic drugs (e.g., tranexamic acid, aminocaproic acid): These medications help prevent the breakdown of blood clots.
Birth control pills: Used to manage heavy menstrual bleeding in women.
Is Communicable
No, Von Willebrand disease is not communicable. It is a genetic disorder, meaning it is passed down through genes from parents to children. In rare cases, it can be acquired as a result of another medical condition, but even then, it is not contagious.
Precautions
Individuals with VWD should take the following precautions:
Inform all healthcare providers (doctors, dentists, etc.) about their condition.
Avoid medications that can interfere with blood clotting, such as aspirin and NSAIDs (nonsteroidal anti-inflammatory drugs).
Be cautious during activities that could lead to injury.
Wear a medical alert bracelet or carry a medical alert card indicating they have VWD.
Discuss family planning with a healthcare provider to understand the risk of passing the condition to children.
How long does an outbreak last?
VWD is a chronic condition, not an outbreak-based illness. Symptoms can vary in intensity and frequency, but the condition itself does not have a defined outbreak period. Bleeding episodes can be triggered by injury, surgery, menstruation or other events.
How is it diagnosed?
VWD is diagnosed through a combination of medical history, physical examination, and blood tests. Key diagnostic tests include:
Von Willebrand factor antigen (VWF:Ag): Measures the amount of VWF in the blood.
Von Willebrand factor activity (VWF:RCo): Assesses how well VWF functions in helping platelets stick together.
Factor VIII clotting activity: Measures the level of factor VIII in the blood, as VWF carries and stabilizes factor VIII.
Multimeric analysis: Evaluates the structure of VWF to identify defects in Type 2 VWD.
Platelet function tests: Assess how well platelets function in blood clotting.
Bleeding time assessment.
Timeline of Symptoms
Symptoms of VWD can appear at any age, but they often become noticeable during childhood or adolescence.
Infancy/Early Childhood: Easy bruising, prolonged bleeding after minor injuries or circumcision.
Childhood/Adolescence: Frequent nosebleeds, heavy bleeding after dental procedures or tonsillectomy.
Adulthood: Prolonged bleeding after surgery or childbirth, heavy menstrual periods in women. The severity of symptoms can vary over time, with some periods of more intense bleeding than others.
Important Considerations
Genetic counseling can be beneficial for individuals with VWD who are considering starting a family.
Women with VWD should discuss management of heavy menstrual bleeding with their doctor.
Individuals with VWD should avoid intramuscular injections whenever possible to minimize the risk of bleeding.
Regular monitoring and follow-up with a hematologist are essential for managing VWD and preventing complications.