Von Willebrand’s Disease

What is Von Willebrand’s Disease?

Von Willebrand’s disease is the most common inherited bleeding disorder affecting 1% of the United States population.  It caused by missing or defective Von Willebrand factor, a clotting protein responsible for platelet aggregation at the site of blood vessel injury. It also protects factor VIII from being destroyed which is equally important in the clotting process.  It affects men and women equally, but women may be disproportionately impacted due to the bleeding from menstruation and childbirth.  Most patients have a mild defect, and clinically significant bleeding is rare. Von Willebrand’s disease can also be acquired when autoantibodies develop against the Von Willebrand factor resulting in its rapid clearance from the circulation.

What is the epidemiology of Von Willebrand’s Disease?

The prevalence of Von Willebrand’s disease in the United States is about 1 in 100 which means about 3.2 million Americans are affected. There are many types of Von Willebrand’s disease it is the most common bleeding disorder, found in up to 1% of the U.S. population

What are the different types of Von Willebrand’s Disease?

Three major forms of Von Willebrand’s disease are:

  • Type 1:  It is a quantitative defect of VWD in which a person has lower than normal levels of VWF. It is the most common form, affecting about 75% of people who have inherited VWD. 
  • Type 2: It is a qualitative defect in which a person makes abnormal type VWF. It is the second most common form. There are subtypes of type 2 that have different characteristics.
  • Type 3: It is a quantitative defect in which a person does not make any VWF at all or have rapid removal of VWF from circulation. It is the rarest form of Von Willebrand’s disease

What are the causes of Von Willebrand’s Disease?

Most cases of Von Willebrand’s disease are inherited and occur when there is a mutation of the VWF gene. A rare type of VWD can be acquired when the body develops autoantibodies against the Von Willebrand factor.

What are the symptoms of Von Willebrand’s Disease?

Bleeding mostly from mucocutaneous sites such as the bleeding the mouth and nose, gastrointestinal tract, or uterus, and vagina are the most common symptoms of VWD. Other symptoms include:

  • Easy bruising
  • Frequent nosebleeds
  • Longer than normal bleeding after Injury, surgery, childbirth, or dental work
  • Heavy menstrual bleeding
  • Easy bruising

How to diagnose Von Willebrand’s Disease?

The diagnosis of VWD involves a detailed patient and family history, a thorough clinical evaluation, and a variety of specialized lab tests.  These lab tests measure the quantity and quality of VWF and factor VIII. Prolonged bleeding time, low Von Willebrand factor antigen, and low Von Willebrand factor activity are common abnormalities seen in Von Willebrand’s disease.  Activated partial thromboplastin (APTT) time is also prolonged in 50% of the patient with VWD 

How to treat Von Willebrand’s Disease?

Von Willebrand’s disease has no cure but there are safe treatments to prevent bleeding complication in patients with this disease which include:

  • Desmopressin Acetate: it is the primary therapy for many patients with type 1 Von Willebrand’s disease and it works by stimulating the release of VWF stored in blood vessel walls
  • Aminocaproic acid and tranexamic acid: These are drugs that prevent the breakdown of blood clots and are often recommended before dental procedures, heavy menstrual bleeding, and to treat bleeding from nose and mouth.
  • Factor replacement therapy: Recombinant VWF and factor VIII are used to treat people with more who do not respond well desmopressin. These are injected medication intended to replace the missing factor in the blood.

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