What is Wilson’s Disease ?
Wilson’s disease is a rare condition characterised by an excessive accumulation of copper in the body, particularly in the liver and brain. But a rarity for a genetic disease is the fact that effective medical treatment is available, on condition that it is initiated at an early stage and pursued throughout life. When it is not treated, Wilson’s disease can be fatal.
The disease bears the name of the British physician Dr Samuel Alexander Kinnier Wilson (1878-1937), a neurologist who described the condition in 1912 in a 212-page treatise.
Click above to download the presentation made by Dr. Wilson to the Paris Neurological Society on 25 January 1912.
The important dates concerning Wilson’s disease/
What is the Wilson’s Disease ?
The Wilson’s disease gene, located on chromosome 13, codes for ATPase7B, an intracellular protein that enables the elimination of copper via the bile and the binding of copper to ceruloplasmin.
In Wilson’s disease, a functional deficit of ATP7B renders hepatic cells incapable of excreting copper into the bile. This results in a copper overload in the liver and the release of free copper into the blood. It is this free copper in the bloodstream that causes damage outside the liver (neurological, ocular, haematological, endocrinological, etc.).
Initially, therefore, Wilson’s disease affects the liver, but if it is not diagnosed, it will involve several organs, and mainly the central nervous system.
Wilson’s disease may be difficult to diagnose.
Treatments are available: the earlier they are initiated, the more effective they will be.
It is necessary to know how to:
1/ SUGGEST the disease
- In the event of abnormal liver function test results
- In the event of hepatocellular insufficiency or cirrhosis
- In the event of deteriorating results at school
- If there is any tremor or other abnormal movements, or Parkinson’s syndrome in a young patient
- If changes affect writing, speaking and/or swallowing
- In the event of psychological disorders
2/ DIAGNOSE the disease
- Perform a full laboratory work-up: ceruloplasmin, REC (ratio of exchangeable copper/total copper), urinary copper/24h, genetic diagnosis.
- Carry out a family survey
- Perform a hepatic ultrasound:
- Perform an ophthalmologic examination: search for Kayser-Fleischer rings:
- Perform an MRI scan of the brain :
3/ TREAT the disease
- Copper chelating agents: D-penicillamine, Triethylenetetramine (trientine)
ATTENTION: Never discontinue the treatment, even during pregnancy.
Speech therapists intervene to perform an assessment of the voice, speech and swallowing. This examination is able to analyse any changes to articulation, voice, speech rates and intonation that might hamper communication.
Following this assessment, advice on swallowing may then be offered to the patient and their family, as will methods that could facilitate communication, with the support of documentation specific to Wilson’s disease.
Depending on the results of this assessment, and in collaboration with the medical and non-medical teams at CNR Wilson, speech therapy sessions may be initiated. The speech therapist at the Reference Centre then works with the patient’s local therapists in order to coordinate this support. The patient is then reassessed on a regular basis during visits to the Reference Centre, in order to ensure his or her optimum speech therapy management.
The 3D consultation
In parallel, at the Reference Centre, a multidisciplinary 3D consultation (Dysarthria, Dysphagia, Dysphonia) involving a neurologist, phoniatrist and speech therapist may also be offered to the patient.
A brochure on swallowing has been compiled by the CNR Wilson in order to provide explanations on swallowing disorders to dysphagic patients with Wilson’s disease and their families. It also contains advice (on diet, posture, environment, rehabilitation and strategies) for patients.
This document, generally handed to patients during a consultation, offers an opportunity to tailor these recommendations to the problems encountered by each individual, following a 3D consultation and/or assessment by a speech therapist.
The clinical psychologist intervenes to interview patients or their family, promptly or regularly to:
- deal with emotional reactions (stress, anxiety, fears, sadness), questionings and changings which can be caused by the announcement of the disease
- support in case of difficulties with their treatment
- help relatives, especially parents for whom the announcement of the disease can be sometimes source of guilt
- or any other psychological request
The CNR Wilson offers neuropsychological management to patients with cognitive and behavioural disorders resulting from Wilson’s disease.
Cognitive disorders include problems that affect different intellectual functions such as:
- Memory: immediate or older memory, such as frequently forgetting appointments, the names of everyday items or words
- Executive functions: everyday organisation, attention during single or double tasks, concentration…
- Movements and what they mean, spatial organisation
A neuropsychological assessment can review each of these functions and appreciate any behavioural disorders (irritability, lack of motivation, etc.) and patients can be offered rehabilitation specific to the problems detected.
The physiotherapist at the CNR Wilson participates in clinical evaluation with all the other team members, focusing on the locomotor function. Minimal deficiencies, such as stiffness or tremor, may hamper detailed tasks (such as writing), but more or less disabling problems may also appear (such as changes to gait). The physiotherapist can assess a patient, establish a physical diagnosis and whenever possible offer recommendations in the form of rehabilitation strategies. The physiotherapists will work with their colleagues who are managing the patients close to their homes. Their mission is to inform and train these colleagues, as well as being involved in the initial training of all physiotherapists.
The dieticians who work in collaboration with the CNR Wilson have compiled a booklet designed to help patients to limit their intake of copper while at the same time eating a balanced diet.
- Liver assessments including abdominal ultrasound, Fibroscan
- Laboratory assessments and determinations of copper levels
- Regular specialist consultations in paediatrics, hepatology and neurology
For more information on Wilson’s disease
The national protocol for the diagnosis and care of Wilson’s disease (PNDS), issued by the French National Health Authority (HAS) in collaboration with the National Reference Centre for Wilson’s disease, has been available online since March 2008.
« What is Wilson’s disease? » is an explanatory brochure designed for use by children with Wilson’s disease and their parents.