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Von Willebrand Disease: Types, Symptoms, Causes, Diagnosis, Treatments

Von Willebrand Disease: Types, Symptoms, Causes, Diagnosis, Treatments

What is Von Willebrand Disease?

Von Willebrand disease is a genetic bleeding disorder caused by a deficiency of von Willebrand factor (VWF). VWF is a protein that helps the blood to clot. Von Willebrand is not the same as hemophilia, which is another type of bleeding disorder.

Bleeding happens when one of your blood vessels breaks. Platelets are a type of cell that circulates in your blood and clumps together to plug broken blood vessels and stop bleeding. VWF is a protein that helps platelets clump together, or clot. If your levels of functional VWF are low, your platelets won’t be able to clot properly. This leads to prolonged bleeding.

According to the Centers for Disease Control and Prevention, von Willebrand disease affects up to 1 percent of the general population in the United States.

Types of Von Willebrand Disease

Three main types of von Willebrand disease exist:

Type 1

Type 1 is the most common type of von Willebrand disease. It causes lower-than-normal levels of VWF to occur in your body. You still have small amounts of VWF in your body to help clot blood. You’ll likely experience mild bleeding problems but be able to live a normal life.

Type 2

If you have type 2 von Willebrand disease, you have normal levels of VWF but it won’t work properly due to structural and functional defects. Type 2 is divided into subtypes, including types:

  • 2A
  • 2B
  • 2M
  • 2N

Type 3

Type 3 is the most dangerous type of von Willebrand disease. If you have this type, your body won’t produce any VWF. As a result, your platelets won’t be able to clot. This will put you at risk of severe bleeding that’s difficult to stop.

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Symptoms of Von Willebrand Disease

If you have von Willebrand disease, your symptoms will vary depending on which type of the disease you have. The most common symptoms that occur in all three types include:

  • easy bruising
  • excessive nose bleeds
  • bleeding from your gums
  • abnormally heavy bleeding during menstruation

Type 3 is the most severe form of the condition. If you have this type, you have no VWF in your body. This makes episodes of bleeding difficult to control. It also raises your risk of internal bleeding, including bleeding in your joints and gastrointestinal system.

Men and women develop von Willebrand disease at the same rate. But women are more likely to experience symptoms and complications due to the increased risk of bleeding during menstruation, pregnancy, and childbirth.

Causes of Von Willebrand Disease

A genetic mutation causes von Willebrand disease. The type of von Willebrand disease that you have depends on whether one or both of your parents have passed a mutated gene on to you. For example, you can only develop type 3 Von Willebrand if you’ve inherited a mutated gene from both of your parents. If you’ve only inherited one copy of the mutated gene, you’ll develop type 1 or 2 von Willebrand disease.

Diagnosis of Von Willebrand Disease

Your doctor will ask you questions about your personal and family history of abnormal bruising and bleeding. Type 3 tends to be the easiest to diagnose. If you have it, you’ll likely have a history of severe bleeding starting early in life.

Along with taking a detailed medical history, your doctor may also use laboratory tests to check for abnormalities in your VWF levels and function. They may also check for abnormalities in clotting factor VIII, which can cause hemophilia. Your doctor can also use blood tests to learn how well your platelets function.

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Your doctor will need to collect a sample of your blood to conduct these tests. Then, they’ll send it to a laboratory for testing. Because of the specialized nature of these tests, it may take up to two or three weeks to receive your results.

Treatments for Von Willebrand Disease

If you have von Willebrand disease, your treatment plan will vary, depending on the type of condition you have. Your doctor may recommend several different treatments.

Non-replacement therapy

Your doctor may prescribe desmopressin (DDAVP), which is a drug recommended for types 1 and 2A. DDAVP stimulates the release of VWF from your body’s cells. Common side effects include a headache, low blood pressure, and fast heart rate.

Replacement therapy

Your doctor may also recommend replacement therapy, using Humate-P or Alphanate Solvent Detergent/Heat Treated (SD/HT). These are two types of biologics, or genetically engineered proteins. They’re developed from human plasma. They can help replace the VWF that’s absent or working improperly in your body.

These replacement therapies aren’t identical and you shouldn’t use them interchangeably. Your doctor may prescribe Humate-P if you have type 2 von Willebrand disease and are unable to tolerate DDAVP. They may also prescribe it if you have a severe case of type 3 von Willebrand disease.

Common side effects of replacement therapy with Humate-P and Alphanate SD/HT include chest tightness, rash, and swelling.

Topical treatments

To treat minor bleeding from small capillaries or veins, your doctor may recommend applying Thrombin-JMI topically. They may also apply Tisseel VH topically after you undergo surgery, but it won’t stop heavy bleeding.

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Other drug therapies

Aminocaproic acid and tranexamic acid are drugs that help steady clots formed by platelets. Doctors often prescribe them to people who are undergoing invasive surgery. Your doctor may also prescribe them if you have type 1 von Willebrand disease. Common side effects include nausea, vomiting, and clot complications.

Drugs to avoid

If you have any form of Von Willebrand disease, it’s important to avoid drugs that can increase your risk of bleeding and complications. For example, avoid aspirin and nonsteroidal anti-inflammatory drugs, such as ibuprofen and naproxen.

Outlook for Von Willebrand Disease

Most people who have type 1 von Willebrand disease are able to live normal lives with only mild bleeding issues. If you have type 2, you’re at an increased risk of experiencing mild to moderate bleeding and complications. You may experience worse bleeding in the case of infection, surgery, or pregnancy. If you have type 3, you’re at risk of severe bleeding, as well as internal bleeding.

No matter what type of von Willebrand disease you have, you should let your healthcare providers know about it, including your dentist. They may need to adjust their procedures to lower your risk of bleeding. You should also let trusted family members and friends know about your condition in case you have an unexpected accident or need life-saving surgery. They can share important information about your condition with your healthcare providers.

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