What is it ?
Wilson’s disease is an inherited genetic disease that prevents the body’s elimination of copper. The accumulation of copper in the liver and brain causes liver or neurological disorders. The prevalence of Wilson’s disease is very low, about 1 in 30,000 people. There is an effective treatment for this disease, but its early diagnosis is problematic because it remains silent for a long time.
Symptoms of Wilson’s disease
Copper accumulation begins at birth, but the first symptoms of Wilson’s disease often appear only in adolescence or adulthood. They can be very diverse because several organs are affected by the accumulation of copper: the heart, the kidneys, the eyes, the blood … The first signs are hepatic or neurological in three-quarters of the cases (40% and 35% respectively) but they can also be psychiatric, renal, haematological and endocrinological. The liver and brain are particularly affected because they naturally contain the most copper.
- Liver disorders: jaundice, cirrhosis, liver failure …
- Neurological disorders: depression, behavioral disorders, learning difficulties, difficulties in expressing oneself, tremors, cramps and contractures (dystonia) …
The Keyser-Fleisher ring that surrounds the iris is characteristic of the accumulation of copper in the eye. In addition to these acute symptoms, Wilson’s disease may manifest as non-characteristic symptoms such as general fatigue, abdominal pain, vomiting and weight loss, anemia and joint pain.
The origins of the disease
At the origin of Wilson’s disease, there is a mutation of the ATP7B gene located on chromosome 13, which is involved in copper metabolism. It controls the production of an ATPase 2 protein that plays a role in the transport of copper from the liver to other parts of the body. Copper is a necessary element for many cellular functions, but present in excessive amounts, it becomes toxic and damages tissues and organs.
Risk factors for Wilson’s disease
The transmission of Wilson’s disease is autosomal recessive. It is therefore necessary to receive two copies of the mutated gene (from the father and the mother) to develop the disease. This implies that men and women are equally exposed and that two parents carrying the mutated but non-diseased gene have one in four risks at each birth of transmitting the disease.
Prevention and treatment of Wilson’s disease
There is an effective treatment to stop the progression of the disease and reduce or even eliminate its symptoms. It is still necessary that it be introduced early or, it often takes long months after the onset of symptoms to diagnose this silent disease, little known and whose symptoms point to many other conditions (hepatitis for which is liver impairment and depression for psychiatric involvement).
A ” chelating ” treatment makes it possible to attract the copper and eliminate it in the urine, thus limiting its accumulation in the organs. It is based on D-penicillamine or Trientine, medicines taken orally. They are effective, but can lead to heavy side effects (kidney damage, allergic reactions …). When these side effects are too great, zinc administration is used which will limit the absorption of copper by the intestines.
Hepatic transplantation may be necessary when the liver is too damaged, which is the case for 5% of people with Wilson’s disease.
A genetic screening test is offered to the siblings of an affected person. It gives rise to an effective preventive treatment in case a genetic abnormality is detected on the ATP7B gene.