What is von Willebrand’s disease?

Von Willebrand’s disease is a genetic condition that occurs in individuals with a deficiency in or impairment of the protein von Willebrand’s factor.

These patients experience excessive bleeding and the inability for blood clots to form quickly.

Children are most likely to inherit von Willebrand’s disease; however, it can develop in adults.

In the rare instance that the disease develops later in life, the likely cause is not certain. Physicians suggest it may be the result of an autoimmune disease or hypothyroidism or it may be linked to certain medications.

Signs and symptoms

Diagnosing a patient with Von Willebrand’s disease is often a challenge, as symptoms often are mild or nonexistent. The most common symptom is abnormal bleeding. This may present itself as bleeding gums, blood in the urine or stool, or recurrent and prolonged nosebleeds.

In some cases, people with von Willebrand disease may experience easy bruising and bruises with lumps that form underneath the skin. Others learn they have the disease when they experience excessive bleeding after surgery or a serious trauma.

In women, an abnormal heavy menstrual flow is a key sign of von Willebrand’s disease. Women who experience blood clots larger than 1 inch in diameter, develop anemia symptoms, or require double sanitary pad protection and the need to change the pad or tampon more often than hourly may have von Willebrand’s disease. However, experts note that the majority of women with heavy menstruation do not have the disease.

Risk factors, disease type

The most likely cause of von Willebrand’s disease is family history, as the abnormal gene is passed on to a child by one or both parents. Patients may have autosomal dominant inherited or autosomal recessive disorder. In autosomal dominant disorder, the gene from only one parent is needed for the child to be affected. For autosomal recessive disorder, both parents pass along the abnormal gene to the child.

There are three types of von Willebrand’s disease. The most common is type 1, in which patients experience low levels of von Willebrand’s factor and Factor VIII. Type 2 includes several subtypes in which von Willebrand’s factor does not properly function. In type 3, which is uncommon, von Willebrand’s factor is nonexistent and there are low levels of Factor VIII.

Treatment

When a person is diagnosed with von Willebrand’s disease, a physician may suggest their family members undergo testing to see if the disease runs in their family.

There is no cure for von Willebrand’s disease. Treatment focuses on the prevention of bleeding episodes, as well as stopping bleeding with the use of medication.

For people with mild forms of the disease, physicians may suggest treatment only when the patient undergoes surgery or a dental procedure. For others, recommended treatments include the synthetic hormone desmopressin, replacement therapies, contraceptives in females, anti-fibrinolytic or clot-stabilizing medications, and fibrin sealants.

In addition, experts suggest patients with von Willebrand’s disease decrease their risk for complications by switching pain relievers from aspirin and ibuprofen to acetaminophen. They also are encouraged to stay active and let all of their physicians — and their dentist — know about their condition.

More information is available at these websites:

www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Von-Willebrand-Disease