Causes and assessment of disability
For most people with haemophilia small cuts and bruises to the skin will cause more prolonged bleeding than normal but will be manageable by applying pressure to the area. The real risk is internal bleeding into joints and the brain and internal bleeding like this is the cause of permanent disability in clotting disorders.
Following a bleed into a joint, the lining of the joint becomes inflamed and thickened and abnormal new blood vessels appear in the lining. Pain associated with inflammation limits movement in the affected joints. The inflamed lining is more likely to re-bleed because of the presence of abnormal blood vessels. Without treatment to prevent bleeding, these joint changes lead to a vicious cycle of re-bleeding and further very severe joint damage. Recurrent bleeding into affected joints causes decreased range of movement very early on and is followed by scarring and arthritis, which may occur at a very early age. Joint damage is often accompanied by loss of muscle strength and over a period of time a joint can become fixed in one position, known as a ‘fixed flexion’ deformity. Once scarring and fixing occurs or when range of movement is significantly affected, movement, for example gait when walking becomes abnormal. This places abnormal strain on other joints and they are prone to bleeding and damage as well. The commonly affected joints are the large joints and these are the -:
- Knees
- Ankles
- Hips
- Elbows
- Shoulders
Bleeding into muscle causes similar damage and leads to shortened muscles with a decreased range of movement.
Bleeding into the brain may cause permanent neurological problems e.g. hemiplegia or epilepsy. In infancy, bleeding into the brain may cause cerebral palsy, learning difficulties or epilepsy, which are permanent impairments and are the complications of uncontrolled bleeding. Anyone over the age of 30 with haemophilia is very likely to have joint complications and may have neurological complications of haemophilia.
Over the last 30 years, treatment of haemophilia has improved dramatically. 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. Previously, joint bleeds were treated with rest and infusion of blood plasma but they are now treated with injections of the missing clotting factor, which is more effective. The outcome of bleeding into the brain has not improved that much as the brain tissue is damaged immediately at the onset of the bleed therefore treatment can only prevent worsening of the neurological impairment but does not reverse it.
People with haemophilia born from 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. Older people are also benefiting from new treatment and function can be preserved by preventing further complications.
Joints and joint scoring
Anyone under the care of a haemophilia comprehensive care centre is likely to have had a joint assessment. This will involve clinical assessment of range of movement of each joint with positive scores given for abnormalities.
The scoring system most commonly used is the ‘World Federation of Haemophilia’ score system. The score for each joint has two components -:
- Clinical examination findings score 0-11 points – this part of the score is an objective assessment of the clinical features of a joint, measuring swelling, deformity, range of movement and stability. Normal joints score 0 – and a deformed fixed joint would score 11
- Pain score 0-3 points – this is a subjective assessment of pain by the patient
A clinically healthy joint will score 0 and a severely impaired painful joint will score 14. Damaged joints are likely to be painful and this is associated with reduced quality of life as well as reduced mobility. Commonly the ankles and knees are the most affected and a positive score in any one of these joints is likely to result in reduced mobility. Joint scoring information on the lower limbs can be used to confirm reduced mobility.
Reduced mobility in the upper limbs may affect ability to self care, but these abilities can be maintained even with high scores. Confirmation of difficulties with self care and mobility in the upper limbs should be sought from the specialist nurse or treating doctor.
Neurological problems
Bleeding into the brain may cause permanent neurological problems.
Amended November 2009
