Von Willebrand disease

Causes and who gets it

The disease is usually caused by a gene change passed on from the mother or father. The gene can be passed to daughters and sons in the same way. Even within the same family, how severe the bleeding is can vary a lot from person to person. There are three main types:

• Type 1: The amount of VWF is lower than normal. It is the most common and usually the mildest type; about three in four people with the disease have this type.
• Type 2: Enough VWF is made, but it does not work well. There are subtypes (2A, 2B, 2M, 2N), and treatment depends on the subtype.
• Type 3: There is very little or no VWF. It is the most severe but very rare type.

In type 1 and most of type 2, each child has a one in two chance of getting the disease. Type 3 usually appears when the changed gene is inherited from both parents. Parents who carry one copy of the gene are called carriers, and they often have no symptoms. Being a carrier is not the same as having the disease; still, some carriers may have mild von Willebrand disease.

Estimates suggest it affects between 1 in 100 and 1 in 10,000 people. About 1 in 1,000 people have noticeable bleeding that needs medical care. Rarely, there is also a form that develops later in adulthood because of another illness or a medicine and is not passed on to children (acquired von Willebrand syndrome).

Symptoms

Symptoms vary with the type and severity of the disease; many people have mild symptoms or none at all. Sometimes the disease is first noticed because of heavy bleeding after surgery, a tooth extraction, an accident or childbirth. Common symptoms:

• Frequent or long-lasting nosebleeds (for example, five or more a year, or lasting longer than 10 minutes)
• Large, raised or frequent bruises from minor bumps
• Bleeding gums, or bleeding that oozes for hours after dental surgery
• Bleeding from small cuts that lasts longer than 5 minutes
• Heavy or long periods
• Heavy bleeding after surgery or childbirth

Heavy periods are the most common symptom in women and are often not taken seriously. Important signs are changing a pad or tampon every 1–2 hours on the heaviest days, periods lasting more than 7 days, clots larger than a grape, and a low blood count (anemia) due to periods. Untreated heavy periods can lead to iron deficiency. Still, most women with heavy periods do not have this disease.

In type 3, there may be severe bleeding without a clear cause and bleeding into joints or muscles.

Diagnosis and tests

Your doctor will first ask about your own and your family's history of bleeding; standard questionnaires may be used for this. If there is a suspicion, you will be referred to a hematologist (a specialist in blood diseases).

Routine blood tests do not show this disease. The platelet count is usually normal. The aPTT test, which measures how long blood takes to clot, may be normal in mild disease. So normal results do not rule out the disease. Diagnosis needs special tests that measure the amount of VWF (VWF antigen), how well it works (VWF activity) and the factor VIII level. If needed, tests that look at the structure of VWF or a genetic test are done.

The VWF level can rise temporarily with stress, bleeding, infection and pregnancy. For this reason, the tests are done at a time when your health is as usual, and they are often repeated. If you take birth control pills, tell your doctor before the test. Testing is also recommended for close family members of someone who is diagnosed.

Treatment approach

Your hematologist plans treatment based on the type and severity of the disease. Many people with mild disease need treatment only for serious bleeding or before procedures such as surgery or a tooth extraction. Minor bleeding can often be stopped with first aid. Treatment groups used:

• A medicine that makes the body release its stored VWF into the blood; because it does not work for everyone, the response is tested in advance
• Factor products containing VWF, given into a vein; in severe disease or for major surgery
• Medicines that stop a clot from breaking down too early; especially for bleeding from the nose, mouth and uterus
• Hormonal treatments that reduce heavy menstrual bleeding

People with frequent and severe bleeding may be offered regular preventive treatment to prevent bleeds. Do not start these medicines on your own.

Everyday life and follow-up

• Tell every doctor, dentist and pharmacist who treats you about your condition. Make a plan with your hematologist before surgery or a tooth extraction.
• Some pain relievers, such as aspirin and ibuprofen, can increase bleeding. Do not use any medicine, including herbal products and supplements, without asking your doctor or pharmacist.
• Carry an alert card or a medical ID bracelet showing your condition, your treatment and your doctor's contact details.
• Brush your teeth morning and evening, and do not skip dental checkups.
• Exercise regularly; ask your doctor about sports with a high risk of injury.
• If you have heavy periods, have your iron stores (ferritin) and blood count checked regularly.
• Let your school, workplace and the people close to you know what to do if bleeding happens.

Pregnancy, children and special situations

In girls, bleeding can be very heavy from the first periods. Girls whose first periods are very heavy, or who have a family history of a bleeding disorder, should be taken to a doctor.

If you are planning a pregnancy or IVF treatment, talk to your hematologist first. As soon as you think you are pregnant, see an obstetrician-gynecologist. In pregnancy, the VWF level rises in some people with type 1; in type 2 and type 3, it usually does not improve. The raised level falls quickly after birth, and bleeding may be prolonged. Blood tests in the last three months of pregnancy help plan the birth. Anesthesia options are discussed with an anesthesiologist before the birth. Bleeding that lasts longer than 6 weeks after birth, or that gets heavier again, is not normal.

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