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Von Willebrand's disease

 

Condition
von Willebrand's disease
Class
Blood
Description
von Willebrand's disease (vW) is a blood clotting condition, which is usually inherited. It was first described about 70 years ago and is named after the person who first reported it: Erik A. von Willebrand.

In vW there is a shortage (quantitative deficiency) of von Willebrand's factor, one of the proteins in the blood that helps blood to clot, or there is something wrong with the factor so that it does not work properly (qualitative deficiency). Whether there is a quantitative or qualitative deficiency, it takes longer for the blood to clot and for bleeding to stop.

vW is estimated to affect about 1 person in every 100 of the population of the UK. For many people, the condition is so mild that it is not diagnosed at all unless they have excessive bleeding after surgery or a major accident.

vW is divided into 'types' according to whether someone has a low amount of von Willebrand factor or has a type of von Willebrand factor that does not work properly, or both.

Type 1
This is the mildest and most common form of vW. Someone with type 1 vW has low levels of von Willebrand factor but their von Willebrand factor does function normally. Three in every four people with vW have type 1 vW.

Type 2
In this type, the von Willebrand factor produced does not work properly. Type 2 vW is divided in four subtypes: 2A, 2B, 2M and 2N.

Type 2A is the most common subtype. People affected have von Willebrand factor which does not work properly. Type 2A vW is classed as moderate.

Type 2B is classed as moderate to severe and can be characterised by thrombocytopaenia (low platelet count).

Type 2M can cause mild to moderate bleeding episodes. It can be difficult to diagnose and is very like Type 1 vW.

Type 2N causes reduced levels of another blood clotting protein, factor VIII, because the von Willebrand factor cannot bind factor VIII properly. It is similar to haemophilia A and only thorough investigations will distinguish between the two. Bleeding is classed as mild to moderate.

These subtypes are treated in different ways, so it is important to know the exact subtype.

Type 3
This type is classified as severe and is the rarest form of the condition, affecting one to five in a million people in the UK. Someone with type 3 vW usually lacks von Willebrand factor altogether and has low amounts of clotting factor VIII. A person with type 3 vW will experience regular bleeding problems which may be severe.

Once a person has been diagnosed as having one of these three types, the severity and type of the condition will not change, although the symptoms experienced may change throughout the person's life.
Causes
vW is usually a genetic condition. This means it is passed down through the genes from parent to child. The abnormal gene in vW is on one of the regular chromosomes, not on one of the sex chromosomes as it is for haemophilia. So, unlike haemophilia which usually affects only males, vW affects males and females in equal numbers.

In what is called the classical inheritance pattern, the vW gene is usually dominant. This means that a parent who has vW has a one in two (50%) chance of passing a vW gene on to each of his or her children. Types 1 and 2 are usually inherited in this way.

Many people carrying this gene are asymptomatic, which means that although they will not have bleeding symptoms, they can still pass the condition on to their children, who could have more severe symptoms than their parents.

In the less common recessive inheritance pattern, two parents, each with vW but without symptoms may together have children who are severely affected by vW. Type 3 vW is usually inherited in a recessive pattern.

Although vW is usually inherited, there is not always a family history. Some children have vW because there was a mutation, or change in the gene, during pregnancy. When this happens, that person's chances of passing the condition onto his or her children are the same as those of a parent who has inherited the condition, whether or not they have bleeding symptoms themselves.

vW can also be acquired rather than inherited, but this is very rare. This means that a person is not born with the condition but develops it later in life. For example, someone with serious immune system problems, such as rheumatoid arthritis, systemic lupus erythematosus, types of kidney failure or certain cancers, might develop acquired vW. This problem is usually caused by the person producing antibodies against their own clotting factors which can destroy von Willebrand factor or factor VIII, preventing these factors from helping the blood to clot.
Symptoms
Some people with a defective von Willebrand gene may not have problems of symptoms, while others may have bleeding problems after tooth extraction or surgery.

Some of the following symptoms may be experienced:
  • frequent nosebleeds, which may be severe
  • easy bruising
  • excessive bleeding in the mouth (from tongue and gums)
  • girls and women may have heavy periods that require treatment to limit bleeding
  • bleeding into joints and muscles (in severe cases - type 3 vW)
In most cases bleeding usually occurs only after an injury although people with severe vW may bleed spontaneously with no apparent cause.
Treatment
The most commonly used medicines include desmopressin, tranexamic acid and clotting factor concentrates.

Desmopressin or DDAVP is a synthetic hormone and not a blood product. Desmopressin is one of the most frequently used treatments for the milder types of vW. It works by causing von Willebrand factor to be released from its storage sites in the lining of the blood vessels. This produces a temporary rise in the amounts of von Willebrand factor and factor VIII in the bloodstream.

Desmopressin is used mainly for people who have type 1 vW as it works at increasing the level of von Willebrand factor. People with type 2 vW have abnormal von Willebrand factor, so releasing an increased amount of this factor into the bloodstream may not correct bleeding. Many haematologists are cautious about treating people with type 2B vW with desmopressin because the drug may over-stimulate the platelets, causing them to clump together excessively. This may lower the blood platelet count, and may make the bleeding worse. People who have type 3 vW do not have any stores of von Willebrand factor, so desmopressin does not work for them.

Tranexamic acid helps reduce bleeding by slowing down the body's natural process of breaking down a clot. This helps to stop bleeding and promotes the healing process. Tranexamic acid is often administered in tablet form, but can be given in syrup form or intravenously. On its own, it is used to treat minor bleeding episodes, such as nose bleeds, but it can be used in combination with other medications such as DDAVP or clotting factor concentrates.

Clotting factor concentrates provide the most effective treatment for vW. The clotting factor used is derived from human plasma, because only human plasma contains the von Willebrand factor. This concentrate is effective in treating most people with severe vW. Recombinant factor VIII, which is a genetically engineered product, does not contain von Willebrand factor and therefore cannot be used in the treatment of vW. No recombinant von Willebrand factor concentrate is yet available.

Oral contraceptives may be used to treat girls or women with mild type 1vW as a means of controlling heavy periods.
When to see your pharmacist
You should let your pharmacist know if you or a member of your family has vW. Some medicines such as aspirin, non-steroidal anti-inflammatory agents, warfarin and certain herbal remedies can make bleeding worse and should be avoided.
When to see your doctor
If you think that you or a member of your family may have vW you should talk to your doctor. As some doctors associate bleeding disorders only with male patients, they may mistake heavy periods as a gynaecological or menstrual problem, not realising that it could be a bleeding disorder. The Haemophilia Society (see below), has a project called 'Women Bleed Too', to raise awareness of this issue and offer support to women living with bleeding disorders.

If your doctor thinks you may have vW, you will be referred to a haematologist - a doctor who specialises in the diagnosis and treatment of bleeding disorders.

The haematologist will want to find out two main things: whether or not you have vW and whether you have type 1, 2 or 3 vW. The diagnosis is made by a careful consideration of your personal and family history of bleeding, together by blood tests on yourself, and often blood tests on other members of your family. An accurate diagnosis is essential. Without a proper diagnosis, people with a bleeding disorder may not receive the appropriate treatment and may face a potentially dangerous outcome from an accident or surgery.

Once a firm diagnosis is reached, you will be registered and regularly reviewed by a comprehensive care centre, such as a haemophilia centre, that is experienced in the treatment of bleeding disorders. Your haematologist and haemophilia centre will devise a personalised management and treatment plan that is suitable for your type of vW and designed to reduce your risk of bleeding. The care centre will teach you how to cope with minor bleeding problems such as bruising and nose bleeds, and will provide instructions on what to do in the event of an emergency. You can also rely on the care centre for information and support.
Living with von Willebrand's disease
Learning that you or your child has vW can cause a whole range of different emotions. For some, it causes fear and anxiety, while for others it can bring relief to be able to put a name to symptoms they have had for years. As a parent, you may feel guilty about passing on vW genes to your children. All these feelings are normal, and are likely to change as you learn more about vW and the effects it will have on your life or, perhaps, your child's life.

The important thing to understand is that you are not alone, there are healthcare professionals who are there to help. Talk with family and friends, join vW self-help groups and talk with others who are affected by vW. Get as much information as you think is necessary to help you understand vW and to answer any doubts or fears that you may have. Sharing information with other family members will help them decide if they too need to be tested for vW. Teachers should also be informed to allow them to cope with any accidents or mishaps such as a nose bleed that a child may have while at school.

Try to stay physically fit. Regular exercise helps keep muscles and joints in good working order and helps reduce the number of bleeding episodes. If you want to take part in sporting activities, take advice from haematologist. Depending on the severity and type of vW, some sports such as contact sports are inadvisable because of the risk of serious bleeds.

Learn to plan ahead. When travelling, take the contact details of the centres that treat bleeding disorders that are near where you will be staying. Also remember any medicines that you may need and carry information about your disorder, and the contact details of your treatment centre back home. It may also help to carry a medical bracelet or other identification in case of emergencies.

If you need dental work or surgery, let your dentist or surgeon know about your condition to help them plan in advance. For all types of vW, treatment may be necessary before any type of surgery, including dental extractions.

Get to know the medicines you can and cannot take. The most common type of medicines to avoid are the non-steroidal anti-inflammatory agents such as diclofenac, ibuprofen and naproxen, but there are many others, including some herbal preparations such as Ginkgo biloba, ginger and feverfew. Always check with your pharmacist before purchasing any medicine to self-treat a minor illness.

While it is natural for parents to be concerned about their child, it is important that you are not over-protective. Children with vW can live perfectly healthy lives, and should be encouraged to go to school and take part in exercise based on recommendations of their doctor. Do not try to conceal vW from your child. Telling your children about vW from an early age will help them understand and cope with the condition as they grow older and have to look after themselves.
Further information

For further information on von Willebrand’s disease contact:


The Haemophilia Society
The Haemophilia Society is the only national and independent organisation for all people affected by bleeding disorders. The Society is led by affected people and works in close partnership with the NHS. It provides information and support for all people affected by bleeding disorders and represent their interests. In Scotland, The Haemophilia Society is known as Haemophilia Scotland.

The Haemophilia Society
1st Floor, Petersham House
57a Hatton Garden,
LONDON, EC1N 8JG
Tel: 020 7831 1020
Fax: 020 7405 4824
Email: info@haemophilia.org.uk
Freephone helpline: 0800 018 6068
Web site: http://www.haemophilia.org.uk/

Haemophilia Scotland
PO BOX 5729
Inverness
IV2 4NX
email: susan@haemophilia.org.uk
email: dan@haemophilia.org.uk

World Federation of Haemophilia
The World Federation of Haemophilia (WFH) is an international not-for-profit organisation dedicated to improving the lives of people with haemophilia and related bleeding disorders.

World Federation of Haemophilia
1425 René Lévesque Blvd. W.
Suite 1010
Montreal, Quebec
H3G 1T7 Canada
Tel.: +1 (514) 875-7944
Fax: +1 (514) 875-8916
Web site: http://www.wfh.org/index.asp?lang=EN

Reviewed on 19 August 2010



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