Von Willebrand Disease

Von Willebrand disease is a condition that affects how your blood clots. It's a long-term problem where the blood doesn't clot normally. This is because the body doesn't have enough of a special protein called von Willebrand factor, or the protein isn't working correctly. This protein is important for helping blood to clot.

Many people are born with this condition, inheriting it from one or both of their parents. Sometimes, the signs of the disease, like heavy bleeding after a simple procedure like a tooth extraction, might not appear for quite some time.

There's no cure for Von Willebrand disease. However, with appropriate medical care and taking good care of yourself, people with this condition can live full and active lives. This might involve managing bleeding episodes through medication or lifestyle adjustments.

Von Willebrand Disease: Understanding the Signs

Many people with von Willebrand disease (VWD) don't realize they have it because the symptoms are often mild or completely absent. The most common symptom is unusual bleeding. This condition is categorized into three main types. The amount of bleeding a person experiences can vary significantly depending on the type and how severe their VWD is.

If you have VWD, you might notice:

• Excessive bleeding: This could happen from a simple cut, after surgery, or even after a tooth extraction.
• Frequent nosebleeds: Nosebleeds that last longer than 10 minutes are a possible sign.
• Heavy menstrual bleeding: This can mean bleeding for a longer duration than usual or needing to change pads or tampons more frequently. It could also involve passing blood clots larger than about an inch in diameter.
• Heavy bleeding during childbirth: Women with VWD may experience more significant bleeding during labor and delivery.
• Blood in urine or stool: The presence of blood in these bodily fluids could be a symptom.
• Easy or unusual bruising: This might include getting bruises easily or having larger, lumpier bruises than usual.

Heavy menstrual bleeding, in particular, can lead to other problems: This heavy bleeding can cause significant blood loss, which can lead to anemia. Symptoms of anemia include tiredness, feeling fatigued, and shortness of breath. Using extra protection, like double pads or tampons, is also a possible sign of heavy bleeding.

If you're experiencing bleeding that doesn't stop easily or continues for a long time, see your doctor.

Von Willebrand disease (VWD) is often caused by a faulty gene that affects a protein called von Willebrand factor (vWF). This protein is important for blood clotting.

vWF helps tiny blood cells called platelets stick together and to the blood vessel walls when you get hurt. If vWF is low or doesn't work correctly, platelets can't do their job properly. This means the blood doesn't clot as it should, and you might bleed more than usual.

Many people with VWD also have lower-than-normal levels of another clotting protein called factor VIII. Factor VIII is also part of the clotting process and is important in another inherited bleeding disorder called hemophilia. However, unlike hemophilia, which mostly affects males, VWD affects both males and females, and it's typically less severe.

In some cases, VWD develops later in life, even if there's no family history of the condition. This is called acquired VWD. It's usually linked to an underlying health problem that affects vWF production or function.

Von Willebrand disease (VWD) often runs in families. This means that if one of your parents has VWD, you have a higher chance of inheriting it. Sometimes, however, the disease may skip a generation.

Most cases of VWD are passed down through what's called an "autosomal dominant" pattern. This means that if you inherit a mutated gene from just one parent, you can develop the disease. If you have VWD and you have children, there's a 50% chance you'll pass the mutated gene on to them.

In a smaller number of cases, VWD follows an "autosomal recessive" pattern. This means that you need to inherit a mutated gene from both parents to develop the disease. This type of inheritance is less common. Think of it like this: both your mom and dad need to each contribute the faulty gene for you to get the disease.

Von Willebrand disease (VWD) is a condition that sometimes makes it hard for the body to stop bleeding. While often mild, in rare cases, it can lead to serious and even life-threatening bleeding episodes. Other problems associated with VWD can include:

• Low red blood cell count (anemia): Heavy bleeding, like during a woman's period, can lead to a shortage of iron in the blood. This shortage can make your body tired and weak, a condition called anemia.
• Joint and tissue pain and swelling: Sometimes, abnormal bleeding can happen inside the joints or soft tissues of the body, causing pain and swelling. This can affect places like knees, ankles, or other areas.

If you're thinking about having children and your family has a history of von Willebrand disease, talking to a genetic counselor could be a good idea. Von Willebrand disease is a condition that can run in families. Even if you don't have any noticeable problems from the disease yourself, you might still carry the gene that causes it. If you carry this gene, there's a chance you could pass it on to your children. Genetic counseling can help you understand the risks and your options.

Mild cases of von Willebrand disease are hard to spot because many people have occasional bleeding that isn't a sign of illness. If a doctor thinks you might have a bleeding problem, they'll likely refer you to a specialist in blood disorders, called a hematologist.

To figure out if you have von Willebrand disease, your doctor will ask about your health history and look for signs like bruises or recent bleeding. They'll also likely order some blood tests.

These blood tests can give different results over time, depending on things like stress, exercise, illness, pregnancy, or medications. So, you might need to have some tests repeated.

If you have von Willebrand disease, your doctor might suggest testing other family members to see if the condition runs in your family.

Here are some of the blood tests your doctor might use:

• Von Willebrand factor antigen: This test measures the amount of a specific protein (von Willebrand factor) in your blood. This protein is important for blood clotting.
• Von Willebrand factor activity: This test checks how well the von Willebrand factor is working in your blood clotting process. There are different ways to measure this activity.
• Factor VIII clotting activity: This test checks the level and function of factor VIII, another protein important for blood clotting. Low levels of factor VIII can be a sign of the disease.
• Von Willebrand factor multimers: This test looks at the structure of the von Willebrand factor protein. It examines how its different parts fit together and how well they work. This helps your doctor determine the specific type of von Willebrand disease you might have.

Von Willebrand Disease Treatment Options

Von Willebrand disease (VWD) doesn't have a cure, but treatments can help manage bleeding episodes. The best treatment plan depends on several factors:

• Your specific condition: How severe is your VWD? Has it affected you in the past?
• Your response to previous treatments: How did you react to any treatments you've tried before?
• Other medications and health conditions: Are you taking any other medicines? Do you have any other health problems that might affect treatment?

Several types of treatments can help manage VWD:

1. Desmopressin (DDAVP): This medicine, given as an injection, is often the first choice for treating VWD. It's a synthetic hormone that prompts your body to release more von Willebrand factor (VWF), a protein crucial for blood clotting. This helps your blood clot more effectively. Doctors may prescribe desmopressin before minor surgeries, like a tooth extraction, to prevent bleeding. Sometimes, a trial run with desmopressin is given first to see if it works for you.

2. Replacement Therapies: These treatments involve infusions of concentrated blood clotting factors. These factors contain VWF and another clotting protein called factor VIII. If desmopressin isn't suitable or effective, replacement therapies might be recommended. A newer type of replacement therapy uses a genetically engineered (recombinant) VWF. This is made without using human blood plasma, which lowers the risk of viral infections or allergic reactions.

3. Oral Contraceptives (Birth Control Pills): Birth control pills contain estrogen, which can increase the levels of VWF and factor VIII in the blood. This can help control heavy menstrual bleeding in women with VWD. However, this is often a secondary treatment option.

4. Clot-Stabilizing Medications: These medications, such as aminocaproic acid (Amicar) and tranexamic acid (Cyklokapron), work by slowing down the body's breakdown of blood clots. Doctors often prescribe these before or after surgical procedures or dental work to help stop bleeding.

5. Topical Treatments for Bleeding: Some products, like fibrin sealants (applied like glue), can be used to stop bleeding from cuts. Over-the-counter products can also help control nosebleeds.

It's crucial to discuss these treatment options with your doctor to determine the best approach for your specific situation and severity of VWD. They can tailor a plan that considers your individual needs and medical history.