Von Willebrand Disease

Diagnosis

To diagnose von Willebrand disease, your healthcare professional will begin by asking about your medical history, bleeding episodes, and any family history of bleeding disorders. A physical examination will also be performed to look for signs such as bruising or recent bleeding.

Several blood tests are commonly used to confirm the diagnosis and determine the type and severity of the disease:

• Von Willebrand factor antigen: Measures the amount of von Willebrand factor protein in your blood.

• Von Willebrand factor activity: Evaluates how well the von Willebrand factor functions in the clotting process.

• Factor VIII clotting activity: Checks whether the levels and activity of factor VIII are too low.

• Von Willebrand factor multimers: Examines the structure and breakdown of von Willebrand factor to help identify the specific type of the disease.

These test results may vary over time due to factors such as stress, exercise, aging, infection, pregnancy, or certain medications. Therefore, your healthcare professional may recommend repeating the tests to confirm the diagnosis.

If von Willebrand disease is suspected, you may be referred to a hematologist, a specialist in blood disorders. Because the condition can run in families, your doctor may also suggest that close relatives such as parents, siblings, and children undergo testing.

Treatment

Von Willebrand disease has no permanent cure, but treatment can effectively manage symptoms and prevent bleeding episodes. The treatment approach depends on the type and severity of your condition, the site and seriousness of bleeding, and any upcoming procedures that may increase bleeding risk, such as dental work or surgery.

Your hematologist may recommend one or more of the following treatment options:

• Desmopressin (DDAVP): A synthetic hormone given as an injection or through a vein that triggers the body to release more von Willebrand factor from the lining of blood vessels. It is often the first-line treatment and may be used before minor surgeries or procedures to reduce bleeding.

• Replacement therapies: These treatments provide von Willebrand factor and factor VIII through an intravenous infusion. They are typically used if desmopressin is ineffective or unsuitable. Some replacement therapies use genetically engineered von Willebrand factor (recombinant factor), which does not contain plasma and carries a lower risk of viral infection or allergic reactions.

• Birth control pills: The estrogen in oral contraceptives can increase von Willebrand factor and factor VIII levels, helping to control heavy menstrual bleeding in women.

• Clot-stabilizing medicines: Medications such as aminocaproic acid (Amicar) and tranexamic acid (Cyklokapron, Lysteda) slow the breakdown of blood clots and are often prescribed before or after surgery or dental procedures.

• Medicines to stop bleeding: A fibrin sealant, such as Tisseel, can be applied directly to wounds using a syringe or spray to help stop bleeding. Over-the-counter products are also available to help manage nosebleeds.

For people with mild von Willebrand disease, treatment may only be necessary in situations that increase bleeding risk, such as surgeries, dental work, or after an injury.