Von Willebrand Disease (VWD) has a significant impact on how blood clots. Patients with VWD may have prolonged bleeding or even excessive bruising even from slight injuries because of insufficient or nonfunctional von Willebrand factor protein. The protein is crucial in the adhesion of platelets and clot formation. This condition might be mild, moderate, or severe in its presentation. Although it is incurable, VWD patients can lead a normal life through proper management and self-care. Learn more about the causes, types, symptoms, and treatment available for VWD from this article.
What happens if you have Von Willebrand Disease?
If you suffer from Von Willebrand Disease, your blood does not clot properly, and you might have the following:
- Bleeding Tendency:
Longer time for small cuts or wounds to stop bleeding due to less effective clot formation. - Bruising:
Easily bruising even with minor trauma, and the bruises may appear larger or darker. - Heavy Menstrual Bleeding:
Women may have heavy bleeding for longer periods than most women and may develop anaemia. - Surgical and Post-Injury Bleeding:
Heavy bleeding during labour and delivery, as well as excessive bleeding following dental procedures or surgeries. - Blood in Urine or Stool:
Internal bleeding can sometimes result in blood in the stool or urine (haematuria).
What is Von Willebrand's Disease?
Von Willebrand Disease is an inherited bleeding disorder that results from a deficiency or malfunction of the von Willebrand factor (vWF), a protein that’s needed for blood clotting. vWF helps the platelets stick to injured walls of blood vessels while stabilising clotting factor VIII, which is significant for clot formation. Without adequate levels of functional vWF, blood clots tend to form more slowly or not at all, resulting in increased duration of bleeding.
What is a Von Willebrand disease patient?
A patient with Von Willebrand disease is characterised by a genetic condition impairing his or her blood’s clotting ability. Such patients typically bleed in excess after injury, surgery, or menstruation and sometimes have to be treated to regulate their bleeding episodes.
What are the types of Von Willebrand disease?
There are three types of VWD:
- Type 1: The mildest and most common form, affecting approximately 60-75% of individuals with VWD. People with Type 1 have a partial deficiency of von Willebrand factor (vWF), meaning their vWF levels are lower than normal but still functional.
- Type 2: In this form, vWF is produced but is dysfunctional or defective and cannot function adequately in the process of blood clotting. Type 2 is subdivided into four subtypes, namely 2A, 2B, 2M, and 2N, which vary in characteristics of how the vWF behaves or interacts within the body.
- Type 3: This is the least common and most severe type of VWD, where there is a near-total absence of von Willebrand factor (VWF) in the blood that leads to severe clotting complications. Such a condition is normally diagnosed early in life with the severity of symptoms.
What are the common symptoms of Von Willebrand disease?
The common symptoms of Von Willebrand Disease vary widely from one individual to another, even within the same family. Some of the symptoms are:
- Frequent nosebleeds
- Easy bruising
- Heavy or prolonged menstrual bleeding (menorrhagia) in women
- Excessive bleeding after surgeries
- Spontaneous internal bleeding (severe cases (Type 3)
How is Von Willebrand Disease diagnosed?
Diagnosing VWD requires a series of specialised blood tests to check the presence and function of von Willebrand factor (vWF) and other coagulation factors:
- Complete Blood Count (CBC): Evaluates platelet levels.
- Coagulation Profile:
- Activated Partial Thromboplastin Time (APTT): It measures the time taken for blood to clot. APTT is commonly prolonged in VWD.
- Prothrombin Time (PT): Test for other pathways of clotting.
- Fibrinogen Test: Determines levels of fibrinogen that play an important role in clot formation.
- von Willebrand Factor Antigen Test: It indicates the amount of vWF within the blood.
- Ristocetin Cofactor Activity Test: It helps to show the function of vWF by checking the ability to cause platelet agglutination.
- Factor VIII Activity Test: The activity of clotting factor VIII that vWF stabilises is determined by this test.
- vWF Multimer Test: Analyses the structure of vWF molecules for defects.
- Platelet Function Tests: This may be performed to test the interaction between vWF and platelets.
What treatments are available for Von Willebrand Disease?
The treatment of VWD varies with the form and severity of the disease and is focused on reducing or preventing haemorrhage episodes. Common treatments include:
- Desmopressin (DDAVP): This is a synthetic hormone that elicits the release of stored von Willebrand factor from blood vessel walls, thereby enhancing the temporary increase in their concentrations. This treatment is generally very efficient for patients presenting with mild and moderate subtypes of von Willebrand Disease, particularly Type 1 since it improves the clotting ability through the activity of vWF enhancement.
- Replacement Therapy: Plasma-derived concentrates containing vWF along with factor VIII are used when DDAVP is ineffective or the case is more severe. Examples include Humate-P or Wilate.
- Anti-fibrinolytic Agents: Tranexamic acid, or aminocaproic acid medications, stop the degradation of blood clots and are useful for managing bleeding during dental work or menstruation.
- Hormonal Therapy: Birth control pills or intrauterine devices (IUDs) manage heavy menstrual bleeding for females with VWD.
- Topical Agents: Topical agents such as fibrin sealants can be applied to surgical wounds during surgery to help facilitate clotting.
- Lifestyle Modifications and Precautions: Preventive measures include avoiding drugs like aspirin or NSAIDs that may exacerbate bleeding and maintaining proper oral hygiene to minimise the risk of dental bleeding.
Regular follow-up with your haematologist is important to tailor your treatment plan.
Can Von Willebrand's Disease be cured?
A cure for Von Willebrand’s Disease does not exist, but patients can live very normal lives with proper management. Thus, the main purpose would be to prevent or control bleeding episodes by both treatment and lifestyle adjustment.
Is Von Willebrand Disease inherited?
Yes, VWD is generally inherited in an autosomal dominant manner, so an affected individual has a 50% chance of passing the condition to his or her offspring.
