Von Willebrand Disease

Bleeding finger
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 Definition

Von Willebrand Disease is the most common inherited bleeding disorder, affecting approximately 1% of the population.

What is Von Willebrand factor?

Von Willebrand factor is a blood protein that binds to factor VIII (a coagulation factor).  When factor VIII is not bound to Von Willebrand disease, it breaks down easily.  Von Willebrand disease also helps platelets to adhere to sites of injury.

What are the symptoms?

Some patients never experience any significant bleeding.  Von Willebrand Disease is associated with:  

  • Easy bruising
  • Prolonged nosebleeds
  • Bleeding from gums
  • Prolonged bleeding after tooth extraction or injury
  • Blood in stool
  • Hematuria (blood in urine)
  • Menorrhagia (excessive menstrual bleeding)
  • Joint bleeding or soft tissue bleeding may occur in severe forms similar to hemophilia

Types of Von Willebrand Disease

  • Type 1:  This is the most common form, occurring in approximately 75% of patients.  It is passed down in families in an autosomal dominant fashion meaning only one parent needs to be affected to pass down the disease.  This results from a lower than normal Von Willebrand factor level.  Bleeding can be mild to severe.
  • Type 2:  Type 2 occurs when the Von Willebrand factor does not function normally.  
    • Type 2A:  Passed down in autosomal dominant fashion.  Moderate to moderately severe bleeding.  
    • Type 2B:  Passed down in autosomal dominant fashion.  Moderate to moderately severe bleeding.  Thrombocytopenia (low platelet count) is not uncommon.
    • Type 2M:  Uncommon type passed down in autosomal dominant fashion.  
    • Type 2N:  Uncommon type passed down in autosomal recessive fashion.  This means the affected patient receives two copies of the mutated gene, one from each parent.  Factor VIII levels can be extremely low.  Bleeding can be severe and may be confused with hemophilia A.  
  • Type 3:  This is a rare type of Von Willebrand Disease.  It is passed down in autosomal dominant fashion.  Bleeding can be severe.  Patients with this type have an extremely low amount or absent Von Willebrand factor.  This in turn causes a deficiency in Factor VIII and significant bleeding.  
  • Acquired:  This form of Von Willebrand disease is caused by something else like cancer, autoimmune disorders, cardiac anomalies (like ventricular septal defect, aortic stenosis), medications or hypothyroidism.

    How is Von Willebrand Disease Diagnosed?

    First, your physician must be suspicious that you have a bleeding disorder based on the symptoms above.  Having other family members with similar symptoms increases suspicion for Von Willebrand Disease, particularly if both males and females are affected (in contrast to hemophilia that predominantly affect males).  

    Von Willebrand Disease is diagnosed by performing a panel of blood work that looks at both the amount of Von Willebrand factor in the blood as well as its function (ristocetin cofactor activity).  Because several types of Von Willebrand Disease can cause a reduction in Factor VIII, levels of this clotting protein are also sent.   Von Willebrand multimers, which looks at the structure of the Von WIllebrand factor and how it is broken down, is important particularly in diagnosing Type 2 disease.  

    What are the treatments for Von Willebrand Disease?

    Mildly affected patients may never require treatment.  

    • DDAVP:  DDAVP (also called desmopressin) is a synthetic hormone that is administered via a nasal spray (or occasionally through an IV).  This hormone helps the body to release Von Willebrand factor stored in the blood vessels.  
    • Von Willebrand Factor replacement:  Similar to replacement factor used in hemophilia, infusions of Von Willebrand factor can be given to prevent or treat bleeding.  These products also contain Factor VIII as well.  
    • Antifibrinolytics:  These medications (brand names Amicar and Lysteda), typically given orally, help to stabilize clot formation.  These can be particularly useful for nosebleeds, mouth bleeding and menstrual bleeding.  
    • Contraceptives:  In women with Von Willebrand Disease and heavy menstrual bleeding, hormonal contraceptives like birth control pills or intrauterine devices may be used to reduce/cease bleeding.  

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