Once the diagnosis of Wilson’s disease is made, whether or not the patient has symptoms, medical treatment must be started quickly, combined with a low-copper diet.
This treatment should be continued throughout life.
Indeed, any interruption of treatment leads to more or less long term, a reappearance or aggravation of symptoms, sometimes brutally and most often very serious.
The goal of medical treatment for Wilson’s disease is to reduce the damages caused by copper and prevent the occurrence of new lesions.
There are 2 phases to treatment:
- The initial phase that seeks to eliminate copper accumulated in the body
- The maintenance phase, when the disease is stabilized
We have 2 types of drugs :
- the copper chelators (Trolovol®, D-Penicillamine and Trientine®) that pick up the copper and eliminate it in the urine
- zinc salts (Wilzin®) that increase the digestive elimination of copper, in the stool
Other treatments, such as tetrathiomolybdate are under study.
Initial treatment should be initiated by increasing the dosage very gradually, in order to reduce the risk of neurological worsening that exists at the beginning of treatment. This aggravation is observed with all treatments; it is most often reversible.
Close clinical and biological monitoring is essential at the beginning of treatment.
The risk of initial neurological worsening may be less important with tetrathiomolybdate, which reduces the intestinal absorption of copper and forms in the blood a complex with copper and albumin, a complex eliminated in the bile. This treatment is currently the subject of international studies and is not yet marketed in France.
The improvement under treatment is not immediate and may not appear until after several months (3-6 months or more).
Wilson’s disease is a rare disease and there have been no studies to compare different treatments.
The choice of treatment is based on symptoms at diagnosis:
- in severe neurological forms and in hepatic forms, treatment is usually started with D-Penicillamine (Trolovol®). If D-Penicillamine (Trolovol®) is not tolerated, it is replaced by Trientine®
- in moderate neurological forms, treatment started is either Trolovol® or zinc (Wilzin®)
- in asymptomatic forms, treatment is usually zinc (Wilzin®)
The decision is made on a case-by-case basis and the High Authority for Health (HAS) recommends taking advice from the Rare Disease Reference Center for Wilson’s disease before starting the treatment.
The side effects :
Trolovol® or D-Penicillamine may cause a decrease in the number of white blood cells and platelets in the blood, the appearance of proteins in the urine and more rarely autoimmune diseases (lupus, myasthenia ), reversible upon discontinuation of treatment. After several years of treatment, some patients may experience abnormal wrinkled skin. The occurrence of these side effects led to stop the D-Penicillamine and replace it with either Trientine® or Zinc.
As for zinc salts, they can cause nausea or even vomiting, at the beginning of treatment.
What is important to remember is that the major risk is to stop the treatment, as this inexorably leads to an aggravation of the disease.