Increasing awareness and education of an under-diagnosed inherited bleeding disorder

Brian O Mahony FACSLM

Chief Executive, Irish Haemophilia Society

Von Willebrand Disorder (VWD) is the most common inherited bleeding disorder with approximately 1 in 1,000 people being affected.

VWD results from the von Willebrand factor (VWF) protein in the blood being lower than normal or poor quality VWF being produced. Normal VWF levels are greater than 50% whereas in VWD, levels are less than 30%. Those with levels between 30% and 50% are said to have low VWF levels but are not categorised as having VWD although they may have some bleeding problems such as easy bruising or heavy menstrual bleeding.  

Understanding signs and symptoms

It is a complex disorder with several subtypes and with severity ranging from mild to severe. VWD affects both men and women. In men or children, easy bruising or frequent, heavy nosebleeds may be the first sign of a bleeding disorder.

The most common warning sign for women are heavy periods or excessive bleeding after childbirth. One in five of those with heavy periods will have an underlying bleeding disorder, which is often undiagnosed. It can be difficult to tell if menstrual bleeding is heavy. Comparing yourself to other women in the family can be misleading as they, too, may also have low VWF levels or VWD without knowing it.

The following symptoms should alert a woman to a potential problem:

• Bleeding which lasts longer than seven days, requires you to change pads or menstrual cup every two hours or passing clots larger than a €1 coin.
  
• Unpredictable bleeding.
  
• Menstrual bleeding which affects daily activity (needing time off work or school).
  

Both men and women with VWD can experience prolonged or heavy bleeding after dental procedures, surgery or trauma. Bleeding into joints can also occur.  

It is a complex disorder with several subtypes and with severity ranging from mild to severe. VWD affects both men and women.

Increasing awareness and diagnosis

Von Willebrand Disorder is massively underdiagnosed in many countries, including Ireland. There are currently 1,643 people in Ireland diagnosed with VWD of whom 618 are male and 1,025 are female.We would expect to have 4,900 diagnosed if all those with VWD were identified.

Treatment options for VWD include desmopressin (a synthetic hormone),tranexamic acid (an anti-fibrinolytic), fibrin glue or factor replacement therapy. For women, options can also include hormonal contraceptives or intrauterine devices.