What Happens If You Have Von Willebrand Disease?

According to the Centers for Disease Control and Prevention, von Willebrand disease (VWD) is the most common bleeding disorder that affects up to one percent of the US population, or more than 14 million Americans. Because most cases of VWD are mild, many people are asymptomatic and do not know they have a defect in their von Willebrand factor gene. Studies report that it takes an average of 16 years for the onset of symptoms. 

Due to improved prophylaxis treatment, as long as people with hemophilia pay attention to their condition and overall health, they can live a full, active and long life. However, it is important to consult a hematologist if you have any symptoms of VWD, such as excessive bleeding or easy bruising, to receive the appropriate care and management.

Von Willebrand disease (WVD) is a common inherited blood disorder that prevents blood clotting. VWD is estimated to be the most common bleeding disorder in the United States affecting one percent of the population.

Von Willebrand disease (WVD) is a genetic disorder that is caused by a fault in the gene involved in the production of the von Willebrand factor (present in the plasma, platelets, and walls of the blood vessels). 

Normally, platelets are responsible for halting the bleeding by sticking to the damaged blood vessels and helping form a blood clot. 

However, in the absence or non-functioning of the von Willebrand factor, the platelets are not able to stick the way they should and it takes longer for platelets to form blood clots.

VWD is inherited in an autosomal dominant inheritance pattern (a mutated gene is inherited from one of the biological parents).

The type of VWD a child is born with depends on the inherited copies of the faulty gene from one or both parents.

• If one of the parents has a genetic fault (autosomal dominant inheritance), there is a 50 percent chance of a child having type I or type II VWD and no risk of having type III VWD.
• If both parents have a faulty gene (autosomal recessive inheritance), there is a 50 percent chance of a child being a carrier and a 25 percent chance of having type III VWD.

In addition, people with blood group O are more often affected by type I VWD than people with blood group A or B.

Some people may develop VWD as a complication of certain cancer types, autoimmune disorders, and heart and blood vessel diseases.

The predominant types of von Willebrand disease (WVD) are:

1. Inherited: It can be of the following three types:
   • Type I
     • Mildest and most common type (affects 60 to 80 percent of people with the disease).
     • People with type I VWD have a low level of von Willebrand factor in their blood, leading to excessive bleeding during surgery, injury, or having a tooth removed.
   • Type II
     • Around 15 to 30 percent of people with von Willebrand disease have this type.
     • People with this type of VWD have a dysfunctional von Willebrand factor, leading to frequent and heavier bleeding.
   • Type III
     • Most severe and rarest type (affecting 5 to 10 percent of people with the disease).
     • People with type III VWD have low levels of the von Willebrand factor. 
     • Bleeding from the mouth, nose, gut, joint, and muscle is commonly seen.
2. Acquired: A rare type that can start at any age and is usually associated with other conditions that affect the blood, immune system, or heart.

Most people with von Willebrand disease do not have symptoms. People with a more severe form of the condition may experience the following symptoms:

• Easy bruising
• Large bruises
• Frequent nosebleeds
• Bleeding gums
• Heavy or long-lasting bleeding from cuts
• Heavy periods 
• Excessive bleeding during or after labor
• Heavy or long-lasting bleeding after dental work (tooth removal or surgery)
• Blood in stools
• Hematuria (blood in urine)
• Painful bleeds into joints and muscles
• Iron-deficiency anemia

The diagnosis of von Willebrand disease (WVD) is based on a thorough medical and family history, current symptoms, and the following tests:

• Complete blood count: To measure the numbers of red blood cells, the different types of white blood cells, and platelets.
• Platelet aggregation tests: A test to measure the appropriateness of the platelets sticking together to produce a blood clot.
• Activated partial thromboplastin time test: To analyze other clotting factors and proteins that help the blood clot.
• Prothrombin time: To measure additional clotting factors.
• Fibrinogen test: Measures the amount of fibrinogen, a protein that helps in blood clotting.
• Von Willebrand factor antigen: To measure the amount of von Willebrand factor protein in the bloodstream.
• Ristocetin cofactor: To evaluate the activity of the von Willebrand factor.
• Von Willebrand factor multimers: To analyze the factor’s structure.

Currently, there is no cure for von Willebrand disease (WVD); however, it can be controlled with medicines and some simple lifestyle measures.

Treatment and prevention of bleeds

• Apply pressure to the wound or pinch the soft part of the nose for a few minutes. It can help stop the bleeding.
• Medications: To be used before a procedure to reduce the risk of bleeding
  • Desmopressin (nasal spray or injection)
  • Tranexamic acid (oral tablets, a mouthwash, or an injection)
  • Von Willebrand factor concentrate (injectable)

Treatment for heavy periods

• Medications
  • Oral contraceptive pills
  • Intrauterine system
  • Tranexamic acid tablets
  • Desmopressin nasal spray
  • Von Willebrand factor concentrate (in severe cases)