How is it treated and managed?
There is no cure for haemophilia and the need for monitoring and treatment is lifelong.
The aim of treatment in haemophilia is to control or prevent abnormal internal bleeding so preventing the joint and neurological impairments and disability associated with the condition. Boys with haemophilia born from the late 1990’s onwards are most likely to have benefited from modern treatment regimes and very few will have any significant impairment related to bleeding complications. The treatment of clotting disorders is replacement of missing clotting factors in the blood to restore normal clotting and prevent, reduce or minimise internal bleeding.
Children with a bleeding disorder of any severity should have access to a Haemophilia Comprehensive Care Centre (CCC). Any boy who requires regular treatment or who has joint damage is likely to receive all of their haemophilia care via the CCC. There are various aspects to care required and these are co-ordinated through the centres. Examples of care include:
- Management of bleeding tendency and clotting factor replacement
- Management of complications of bleeds
- Specialist physiotherapy assessment and treatment
- Psychological and social care
- Genetic counselling
The aims of management are:
- control bleeding tendency
- treat bleeding episodes
- prevent joint damage and neurological complications
- manage joint damage
- enable normal growth and development during childhood and support normal life in adulthood
Clotting Factor replacement therapy
The cornerstone of treatment is the replacement of clotting factors to enable normal blood clotting and to prevent complications of bleeds. If frequent treatment is required it is likely to be administered at home with help, support and guidance from the centre. The clotting factor used will vary depending on which factor is deficient:
- Haemophilia A – clotting factor VIII
- Haemophilia B – clotting factor IX
There are two different regimens used and these are:
- Prophylactic (preventative) clotting factor therapy
- “on demand” therapy - clotting factor replacement as needed to treat bleeding
Choice of regimen will depend on frequency of bleeding without treatment and levels of clotting factors.
Prophylactic (preventative) clotting factor treatment was introduced throughout the UK in the late 1990’s; it has revolutionised care for those with severe haemophilia. The aim of treatment is to prevent or minimise bleeding episodes thereby preventing joint damage, which is the most common cause of disability in the condition. It is most likely to be used in children with very low levels of clotting factors (<1iu/dl).
Treatment involves regular intravenous injection of clotting factors 2 to 4 times a week. Dose adjustments are made and extra doses given depending on activities, Bleeding tendency and clotting factor levels are monitored. Children will require help with all aspects of this until they are able to manage it substantially for themselves.
Children with severe haemophilia who have had prophylactic treatment since early childhood can achieve adulthood with minimal or no joint damage. The advantage of maintaining normal joints through prophylactic treatment is that normal healthy joints are less likely to bleed spontaneously and although careful management of the bleeding tendency is required a normal life with no or minimal disability can be achieved. Despite prophylactic treatment the risk of bleeding persists, as low levels of factors will be present just before the next injection. Some joint damage may occur because of this. In those with poor veins a portacath (or rarely indwelling Hickman line) for administering clotting factors may be used. Children born before this treatment was introduced or outside the UK, or in whom treatment started late are likely to have joint problems or other difficulties related to bleeds that happened before they started using prophylactic clotting factor replacement.
Obtaining and storing clotting factors
Clotting factors are home delivered throughout the UK. They are delivered in powder form and need to be mixed with a carrier for injection just prior to use. Supplies should be stored in the fridge but can be kept outside the fridge for up to 3 months making them suitable for carrying around to use at the onset of bleeding. Immediate treatment with clotting factors prevents large and damaging bleeds into joints so minimising damage.
Clotting factor replacement ‘on demand’ therapy
Children with less severe haemophilia or other clotting factor deficiency are likely to use clotting factor replacement only when needed. They will need to administer the clotting factors as described above. Treatment is likely to be intermittent i.e. much less often than in prophylactic treatment. Again the aim is to administer clotting factors as soon as a bleed begins, to minimise long term damage to joints. Children will require help with all aspects of their treatment until they can do it for themselves.
Children with mild haemophilia may need clotting factor replacement after trauma or to cover them for surgery or tooth extraction. There is only occasional need for children like this to learn how to administer their own clotting factors or to keep supplies at home.
Drugs used in haemophilia and clotting factor deficiency
Children with low levels of clotting factors can use drug treatments to control bleeding. There are two drugs that may be used at home to control bleeding, these are:
- Tranexamic acid – an oral tablet or syrup or mouthwash
- Desmopressin (DDAVP) – this drug can be given as an injection or as a nasal spray.
Treatment of acute bleeding episodes
Minor cuts and bruises are easily managed at home with pressure, first aid and administration of clotting factors if necessary. There are no long term consequences from these injuries.
Anything more than minor trauma may require hospital attendance to check for internal bleeding e.g. banging head on cupboard door. This is particularly important for those with moderate and severe clotting factor deficiency.
The most common problem in terms of bleeding, for someone with severe clotting factor deficiency, will be bleeding in to joints. Obviously as joint damage is the most common cause of mobility problems for them, minimising harm from bleeding into joints is a very important. Most children will learn how to identify bleeding at a very early stage. Early clotting factor treatment can then be administered. This prevents the large joint haematomas that were so characteristic of this condition, from forming. Because bleeding is stopped at an early stage splintage and joint aspiration are rarely required and parents can manage bleeds at home. Home management consists of:
- Administration of clotting factor
- Rest
- Ice
- Elevation
- Wrapping of affected limb.
Gentle mobilisation can begin the following day. Recovery from a bleed like this will take 2-3 days during which a child will be mobile around the home.
Children with inhibitor may not be able to manage their bleeding at home and are at risk from large haematomas – they may need to attend hospital and are likely to be managed with splintage in addition to clotting factor treatment. Recovery from an acute bleed in this situation is likely to take two weeks.
Treatment of neurological events
The principles of treatment are to stop bleeding by replacing clotting factors and prevent or reduce permanent disability due to brain damage. Such treatment will take place in hospital and may include neurosurgery.
Age and treatment and disabling effects
Children are most likely to have no or minimal joint damage because they have received prophylactic clotting factor treatment from a young age thereby reducing bleeds and long term damage. Prophylactic therapy was not used throughout the UK until the late 1990s. Children born before then may have disabling problems related to joint damage. Children with haemophilia born since then are unlikely to have significant joint damage unless they have an inhibitor.
