VON WILLEBRAND DISEASE

About Your Diagnosis
Von Willebrand disease is an inherited bleeding disorder of variable severity that may manifest itself only with trauma or a surgical procedure. The cause of bleeding is deficiency or abnormality in the von Willebrand factor. This complex factor provides the important interaction between platelets that stops bleeding. An estimated 1% to 3% of the population carries the gene for von Willebrand disease. The disease affects men and women equally and affects different ethnic groups. A subtype that constitutes a severe deficiency is rare and affects one in a million persons. Von Willebrand disease is inherited from one’s parents. It can manifest in all generations (autosomal dominant type) or skip generations (autosomal recessive). Persons who report easy bruising, bleeding from the mouth or nose, or excessive bleeding after a surgical or dental procedure need to be tested for von Willebrand disease. Special tests can be performed that measure bleeding time and the amount and quality of von Willebrand factor in the blood. First-degree relatives of patients with the disease benefit from the same tests. Von Willebrand disease cannot be cured, but it can be effectively managed to prevent bleeding. Most persons with this disease need treatment only if they need an operation or experience serious trauma. A very small percentage of patients need constant treatment.

Living With Your Diagnosis
There are three subtypes of von Willebrand disease. Patients with Type I have a mild deficiency and may have excessive bleeding during operations, dental extractions, or trauma. Type II is characterized by production of von Willebrand factor with abnormal function. Most of those patients have mild manifestations. Only patients with Type III, which is very rare, have virtually no von Willebrand factor. They may have spontaneous bleeding from the gums, mouth, nose, and even into muscles or joints. Once the diagnosis of von Willebrand disease is made, appropriate treatment and precautions usually prevent excessive bleeding. For patients with mild or moderate disease, there is no limitation on regular exercise.

Treatment
Most patients with Type I and Type II disease do not need treatment. However, in the setting of an elective surgical procedure or serious trauma, treatment is indicated. Patients with Type III von Willebrand disease need routine supplementation. Desmopressin (DDAVP) is a synthetic hormone that
stimulates release of von Willebrand factor from the “storage cells” into the blood stream. It is essential to repeat special blood tests after DDAVP therapy to demonstrate efficacy for every patient. Response to DDAVP can vary. DDAVP most frequently is administered through intravenous infusion in a hospital or surgical center. It is also available as a nasal spray (Stimate). Stimate can be used at home for on-demand control of minor bleeding and prophylactically before activities that are likely to produce bleeding or minor surgical procedures. DDAVP can not be used more frequently than once every 48 hours. For patients who do not respond well to DDAVP, replacement with von Willebrand factor from human plasma is indicated. Cryoprecipitate or special factor concentrates (intermediate purity virus inactivated factor VIII) are used for this purpose. Other medications used to stop bleeding, such as aminocaproic acid (e.g., Amicar) and tranexamic acid (Cyklokapron), are important during surgical procedures on the oral cavity or gastrointestinal tract. Patients receiving DDAVP need to be monitored for blood pressure elevations. Some patients experience headaches, nasal congestion, and nausea. Transfusion of cryoprecipitate or factor VIII concentrates carries the risks of use of any blood product. The risks are infection, especially viral infections, and allergic reactions. Virus inactivated products are protected from most viral agents.
The DOs
• Have DDAVP treatment prescribed and monitored by a physician.
• Use Stimate nasal spray according to the instructions. Keep Stimate away from children. A physician monitors the infusion of plasma concentrates in the hospital.
• Be vaccinated for hepatitis A and B virus before transfusions.
• Use medical alert identification.
The DONT’s
• Do not use Stimate more frequently than indicated.
• Avoid using anti-inflammatory medications, such as aspirin or ibuprofen (eg, Motrin), without consulting a physician. They can worsen bleeding.
• Avoid interactive sports and games, which can lead to trauma.
When to Call Your Doctor
• If you are going to undergo any operation or dental procedure or participate in a sporting event that can lead to bleeding. Report immediately
any bleeding that cannot be controlled with your regular medication.