Von Willebrand (VWD)

Annabelle Griffin also suffers from von Willebrand (VWD) which is a bleeding disorder.

 

People who suffer from VWD either have a deficiency of a blood protein called von Willebrand factor, or this protein doesn't work properly. It means that their blood cannot clot properly and they are prone to bleeding.

 

All parents deal with a child's bruises and bloody noses from time to time. For most children, a bandage and a sympathetic hug is all it takes to get them back in the game. But a small number of children might have constant nosebleeds, unexplained bruising, or prolonged bleeding after a tooth is pulled.

 

Excessive or prolonged bleeding could be a sign of a genetic disorder known as von Willebrand disease. For many people, the symptoms are so mild that they never even know they have the disorder. For those with a more severe form of the disease, a proper diagnosis and treatment plan can help them to live an active life.

 

Annabelle has type 1 VWD and is treated with DDAVP when she suffers any traumatic injury.

 

Von Willebrand factor acts like a glue to make platelets (a type of blood cell) clump together and plug up damaged blood vessels. This is essential for clotting.

 

Another function of von Willebrand factor is to carry a clotting protein called factor VIII.

 

What are the symptoms?

 

Many people with VWD will experience:

  • easy and unusual bruising
  • bleeding in the gums, nose and lining of the gut
  • prolonged bleeding from cuts
  • excessive bleeding after tooth extraction or surgery
  • abnormally heavy periods (in women)

 

For most people, the symptoms of VWD are so mild that they may never know they have it.

 

About 1-2% of the UK population have reduced levels of von Willebrand factor, but only about 1 in 1,000 people have symptoms that might require medical attention. Even people with more severe symptoms can go on to lead normal and active lives with treatment.

What causes VWD?

 

VWD is a genetic condition – the child inherits an abnormal gene from one or both parents.

 

There are four different types of VWD. The condition is classified according to the amount and function of the Willebrand factor in the blood:

 

Type 1 – The mildest and most common type. People with type 1 VWD have a reduced level of von Willebrand factor in their blood. Symptoms might be so mild that they never know they have VWD. They don't usually bleed spontaneously, but can bleed significantly if they have surgery, injure themselves or have a tooth pulled.

 

Type 2 – In this type, the Von Willebrand factor doesn't work properly. Treatment differs depending on which type 2 VWD you have.

 

Type 3 - People with this type have very low levels of von Willebrand factor in their blood, or none at all. It is a severe bleeding disorder similar to haemophilia. Bleeding from the mouth, nose and bowel from an early age is typical, and joint and muscle bleeds can occur after injury.

 

Type 3 VWD is very rare.

 

Pseudo, or platelet type – this is similar to type 2, but instead of the abnormality occurring in the von Willebrand factor, it occurs in the platelets.

 

Types 1 and 2 VWD are often passed on through 'dominant inheritance'. This means that even if only one parent has the gene and passes it to their child, the child will have the disorder. This is not always the case in milder type 1 disease, where inheritance is less predictable.

 

Type 3 VWD is passed on through 'recessive inheritance'. This means the child needs to inherit the abnormal gene from both parents (which is why it's much less common). The parents who are genetic 'carriers' of the VWD usually have no bleeding symptoms themselves and may or may not have reduced levels of Von Willebrand protein in the blood.

 

This photo was taken when Annabelle suffered an injury to her head in 2012, the nurses in A&E managed to glue the cut.

How is VWD diagnosed?

 

The symptoms of VWD can be mild and this can mean it is sometimes difficult to diagnose.

 

A blood test can help confirm the diagnosis. Occasionally, these tests have to be repeated because levels of von Willebrand factor can vary over time. The doctor will also ask about a child's family history to see if any other members of the family have a bleeding disorder.

 

Someone with suspected VWD should be referred to a haematologist (specialist in diagnosing and treating disorders of the blood).

 

How is VWD managed?

 

Mild bleeding might not need any treatment, and you may be able to manage the disease by taking special precautions and making a few lifestyle changes.

 

Otherwise, three main treatments are available to either prevent or treat bleeding:

  • desmopressin – a nasal spray or injection
  • tranexamic acid – mouthwash, tablets or an injection
  • Von Willebrand factor replacement – this is purified from human plasma (from donated blood) and is given as an infusion directly into the vein.

 

Your doctor will explain which medication is suitable for you and when you should take it.

 

Sometimes, your doctor may recommend a 'test dose' of desmopressin to check that it works well. Common side effects include flushing (a feeling of blood rushing to the face and skin), a fast heartbeat, and sometimes a mild headache. It can cause fluid retention for up to 24 hours, so your doctor will ask you to restrict the amount of fluid you drink after treatment.

 

Some advice on the use of these medications is given below, along with general lifestyle changes you can make.

General advice

 

Most people with VWD have the mildest type, type 1, and may not even realise they have it. They can live normal and active lives and take part in most sports and activities.

 

In severe cases, contact sports should be avoided and caution is needed for certain activities. Protective equipment should also be worn for certain activities.

 

People with VWD should avoid taking aspirin and non-steroidal anti-inflammatory drugs (NSAID) such as ibuprofen, as these might make the condition worse. If someone with VWD has an accident or is scheduled for surgery, it is important that the doctor is aware the person has the condition.

 

Due to the risk of excessive bleeding, boys at risk of VWD should not be circumcised without first speaking to a doctor.

 

Managing heavy periods

 

Girls with VWD who have heavy periods might want to carry extra pads or even a change of clothes in case of accidents. They should get advice from their GP or gynaecologist about options to control their bleeding, these include:

  • the oral contraceptive pill
  • a tablet called tranexamic acid
  • an intrauterine device (IUD)
  • less commonly, a desmopressin nasal spray
  • in severe cases, VWF concentrate

 

Managing nosebleeds and other injuries

 

If bleeding does occur, applying pressure to the area may be all that's needed. Someone who gets a nosebleed should put pressure on the bridge of the nose to help stop the bleeding. 

 

Preventing bleeding before dental procedures or surgery, People with type 1 VWD can usually be treated with desmopressin before dental procedures or surgery. Desmopressin temporarily boosts levels of von Willebrand factor just long enough to prevent bleeding during the procedure. It can be given into the vein, under the skin (subcutaneous) or sometimes as a nasal spray.

 

Tranexamic acid is often given in addition to desmopressin. This may or may not be helpful for treating people with some forms of type 2 VWD, and is not at all effective in type 3 VWD, as there are no levels of von Willebrand factor to boost.

 

Preventing bleeding before major surgery or treating severe injury

 

People with type 3 (and most with type 2) VWD disease will need to take von Willebrand factor concentrate before they have major surgery. This contains both von Willebrand factor and factor VIII (another clotting protein). It is given intravenously (injected into a vein).

 

Patients with type 1 also might need factor concentrate after a severe injury or before major surgery, although they can generally be treated with desmopressin and tranexamic acid.

Information courtesy of NHS Choices; Von Willebrand diseases.

History of Von Willebrand

vWD is named after Erik Adolf von Willebrand, a Finnish paediatrician who first described the disease in 1926.

 

In 1924, a 5-year-old girl who lived on the Åland Islands was brought to Deaconess Hospital in Helsinki, Finland, where she was seen by Dr. Erik von Willebrand.

 

He ultimately assessed 66 members of her family and reported in 1926 that this was a previously undescribed bleeding disorder that differed from hemophilia.

Dr von Willebrand recognised the autosomal inheritance pattern, and noted that the bleeding symptoms were greater in children and in women of childbearing age. Thus, he stated that patients with this syndrome had mucocutaneous bleeding, normal clotting time, autosomal inheritance rather than being linked to the X chromosome, and prolonged bleeding times by the Duke method (ear lobe bleeding time).

 

He subsequently found that blood transfusions were useful not only to correct the anemia but also to control bleeding.

 

In the 1950s, it became clear that a "plasma factor," antihemophilic factor (FVIII), was decreased in these persons and that Cohn fraction I-0 could correct both the plasma deficiency of FVIII and the prolonged bleeding time. Since this time, the factor causing the long bleeding time was called "von Willebrand factor" in honour of Dr. Erick von Willebrand.

 

Variant forms of VWF were recognized in the 1970s, and we now recognize that these variations are the result of synthesis of an abnormal protein.

 

During the 1980s, molecular and cellular studies distinguished hemophilia A and vWD more precisely. Persons who had vWD had a normal FVIII gene on the X chromosome, and some had an abnormal vWF gene on chromosome.

 

Gene sequencing identified many of these persons as having a vWF gene mutation. The genetic causes of milder forms of low vWF are still under investigation, and these forms may not always be caused by an abnormal vWF gene.

von Willebrand disease types I and II are inherited in an autosomal dominant pattern.

von Willebrand disease type III (and sometimes II) is inherited in an autosomal recessive pattern.

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