Von Willebrand Disease

Diagnosis

Mild cases of von Willebrand disease can present a diagnostic challenge due to the common occurrence of bleeding, which may not immediately suggest an underlying disorder for most individuals. However, if your doctor suspects a bleeding disorder, they may refer you to a specialist in blood disorders, known as a hematologist.

To assess you for von Willebrand disease, your doctor will likely conduct a thorough examination of your medical history and examine you for bruises or other indications of recent bleeding. Additionally, they will likely recommend the following blood tests:

• Von Willebrand factor antigen. This measures a specific protein to assess the amount of von Willebrand factor in your blood.
• Von Willebrand factor activity. The effectiveness of the von Willebrand factor in your clotting process can be assessed using a number of different assays.
• Factor VIII clotting activity. This indicates whether your levels and activity of factor VIII are abnormally low.
• Von Willebrand factor multimers. This assesses the composition, protein complexes, and molecular disintegration of von Willebrand factor in your blood. This data aids in determining the specific type of von Willebrand disease you may have.

The outcomes of these tests may vary in the same individual over time due to factors like stress, physical activity, illness, pregnancy, and medication usage. Therefore, it may be necessary to repeat certain tests.

If you are diagnosed with von Willebrand disease, your doctor may recommend that family members undergo testing to ascertain whether the condition is present in your family.

Treatment

While von Willebrand disease cannot be cured, treatment options are available to prevent or manage bleeding episodes. The choice of treatment depends on the kind and severity of your condition, how you’ve responded to prior therapy, as well as your other drugs and conditions.

Your doctor may recommend one or more of the following treatments to boost your von Willebrand factor levels, enhance blood clotting, or manage heavy menstrual bleeding:

• Desmopressin. This medication, known as desmopressin, is available in injection form. It is a synthetic hormone that regulates bleeding by prompting your body to release more von Willebrand factor stored in the lining of your blood vessels. Desmopressin is often regarded as the initial treatment option for managing von Willebrand disease by many physicians. It can be administered before minor surgical procedures to aid in controlling bleeding. A trial of desmopressin may be prescribed to assess its effectiveness for individual patients.
• Replacement therapies. These treatments involve infusions of concentrated blood-clotting factors containing von Willebrand factor and factor VIII. Your doctor may suggest them if desmopressin is not suitable for you or has not been effective.

Another approved replacement therapy for adults aged 18 and above is a genetically engineered (recombinant) von Willebrand factor product. This recombinant factor is manufactured without plasma, thereby lowering the risk of viral infection or allergic reactions.

• Clot-stabilizing medications. These medications, known as anti-fibrinolytic agents, including aminocaproic acid and tranexamic acid, are effective in halting bleeding by inhibiting the breakdown of blood clots. They are commonly prescribed by doctors before or after surgical procedures or tooth extractions.
• Oral contraceptives. Aside from their contraceptive effects, these medications can also assist in managing heavy menstrual bleeding. The estrogen hormones present in birth control pills have the potential to increase von Willebrand factor and factor VIII activity.
• Drugs applied to cuts. A fibrin sealant, such as Tisseel, applied to a wound helps to reduce bleeding. It is administered using a syringe, much like glue. Additionally, there are over-the-counter products available for managing nosebleeds.

If your condition is mild, your doctor may advise treatment solely during surgical procedures, dental work, or following trauma.