Von Willebrand Disease Treated at Karmanos

Treatment of Von Willebrand Disease

What is von Willebrand disease?

Von Willebrand disease (VWD) is a lifelong bleeding disorder that interferes with the body’s ability to clot properly. It occurs when the body has low levels of von Willebrand factor (VWF), a protein essential for blood clotting. This can also happen when the protein does not function properly. During normal clot formation, VWF binds to factor VIII (8) and platelets in the blood vessel wall, forming a platelet plug. When this process is impaired, bleeding can last longer than usual.

VWD is the most common bleeding disorder. It affects nearly 1% of the U.S. population. Symptoms may not appear until later in life. The condition affects men and women equally, but women often experience more noticeable symptoms due to heavy menstrual bleeding.

Types of von Willebrand disease

There are three main types of VWD. A fourth type, acquired VWD, is not inherited. VWD types include the following:

• Type 1 VWD is found in 60-80% of VWD patients. Low VWF levels characterize it and usually cause mild symptoms.
• Type 2 VWD is found in 15-30% of VWD patients. Normal VWF levels characterize it, but the factor does not function properly. Type 2 is divided into these four subtypes: 2A, 2B, 2M, and 2N, depending on how the VWF is defective.
• Type 3 VWD is found in 5-10% of VWD patients. Very low VWF levels in the blood characterize it. Some individuals may also be low in factor VIII. Symptoms are often severe and may include spontaneous bleeding episodes.

Causes of von Willebrand disease

VWD is most often caused by genetic mutations that interfere with the body’s ability to produce the necessary amount of VWF. These proteins are essential for blood clotting.

Many people develop VWD by inheriting a faulty gene from either their biological mother or father, called autosomal dominant inheritance. In more severe cases, VWD can be inherited from both parents, a condition called autosomal recessive inheritance. VWD can also be acquired later in life. This may occur due to certain cancers, autoimmune disorders, and heart and blood vessel disease. Acquired VWD can also result from spontaneous genetic mutations, even when there is no known family history.

Signs and symptoms of von Willebrand disease

The signs and symptoms of VWD vary depending on the type and severity of the condition. The most common symptom is bleeding more than expected. Other signs of VWD may include:

• Bleeding for a long time after injury, surgery or dental work.
• Blood in urine or stool.
• Easy bruising or lumpy bruises.
• Heavy bleeding during or after labor and delivery.
• Heavy or prolonged menstrual bleeding.
• Nosebleeds that last longer than 10 minutes.
• Sudden bleeding into joints (with more serious forms of VWD).

Menstrual symptoms may include clots larger than 1 inch, changing menstrual pads or tampons more than once an hour, the use of double sanitary protection, or signs of anemia.

Risk factors for von Willebrand disease

The primary risk factor for VWD is having a family history of the disorder. Having a parent with the VWD gene increases the risk. Most cases follow an autosomal dominant inheritance pattern, meaning only one changed gene is needed. The most serious form of the condition occurs when both parents pass on a changed gene, known as autosomal recessive.

When you have low levels of VWD protein or the protein does not work as it should, blood cells called platelets cannot stick together well. Platelets have a harder time attaching to blood vessels after an injury, which increases bruising and bleeding.

How is von Willebrand disease diagnosed?

There is a combination of clinical evaluations that specialists consider, including family and bleeding histories, as well as blood tests. Your health care provider may order specialized clotting tests, including:

• Factor VIII clotting activity: Measures factor VIII levels and activity.
• Von Willebrand factor activity: Evaluates how well the VWF functions.
• Von Willebrand factor antigen: Measures the amount of VWF in the blood.
• Von Willebrand factor multimers: Examines the structure and breakdown of VWF proteins.

Test results may change over time due to aging, exercise, infection, medications, pregnancy, and stress. You may need to repeat the tests several times to get an accurate diagnosis.

Your health care provider may refer you to a hematologist, a specialist in blood disorders. If VWD is diagnosed, family members may also be recommended for testing. Genetic testing may be performed in some cases, including prenatal testing when a family history is known.

Treatment options for von Willebrand disease

Although there is no cure for VWD, several treatment options are available to help prevent bleeding. The treatment may depend on the following factors:

• The type of condition and how severe it is.
• Where the bleeding is and how severe it is.
• The patient’s need for procedures, such as dental work that causes bleeding.

Hematologists may suggest one or more of the following treatment options:

• Birth control pills can help manage heavy bleeding during menstrual cycles.
• Clot-stabilizing medicines slow the breakdown of blood clots. These are also called antifibrinolytics.
• Desmopressin (DDAVP) is a synthetic hormone that stimulates the body to release more of stored VWF.
• Replacement therapies, where patients receive blood-clotting factors through the vein, such as VWF and factor VIII.
• Medications to stop bleeding.

Information about von Willebrand disease, causes, risk factors, diagnosis and treatment.