Definition
Wilson's disease - also known as hepatolenticular degeneration - is a rare and hereditary genetic disorder. This disease causes an accumulation of copper in the tissues and organs of individuals who are affected.
The major effects of this abnormal accumulation are manifested above all in the brain and liver, but not only.
If not properly treated, Wilson's disease can lead to fatal outcomes.
Causes
Being a genetic disease, the triggering cause is the alteration of a gene. More in detail, there is a modification of the ATP7B gene located on chromosome 13.
This gene encodes a particular protein, whose job is to promote the excretion of excess copper through bile. Because of this genetic modification, the protein in question is not produced and, consequently, copper accumulates in organs and tissues.
Symptoms
Hepatitis, liver cirrhosis, jaundice, hepatomegaly and splenomegaly may occur in patients with Wilson's disease. In addition, symptoms such as vomiting, abdominal pain, dysarthria, dysphagia, tremors, slowness in movement and difficulty walking, headaches, muscle weakness and stiffness, mood and personality changes, difficulty concentrating, depression, hematuria, glycosuria, can occur anemia, amenorrhea and Kayser-Fleischer rings.
Information on Wilson's disease - Drugs and Care is not intended to replace the direct relationship between health professional and patient. Always consult your doctor and / or specialist before taking Wilson's disease - Drugs and Care.
drugs
The pharmacological treatment of Wilson's disease is based on the administration of drugs capable of chelating copper or reducing its absorption, so as to favor its elimination from the body.
The drug of choice for the treatment of Wilson's disease is penicillamine. Moreover, in some European countries (such as, for example, in the United Kingdom), if the treatment based on penicillamine is not tolerated, an alternative therapy based on trientine (another drug able to chelate the copper, less effective but with fewer side effects than penicillamine).
To reduce copper absorption, however, zinc is usually administered.
In addition to drug treatment, patients suffering from Wilson's disease must also adopt a specific diet, taking care to avoid eating foods that contain high levels of copper, such as chocolate, nuts, mushrooms, liver and fruits. sea.
If Wilson's disease has caused irreparable damage to the liver and / or if the drug treatment is not effective, the doctor may consider it necessary to carry out a liver transplant.
Penicillamine
Penicillamine (Pemine ®) is a molecule capable of chelating copper and favoring its excretion through urine. It is a drug available for oral administration with specific indications for the treatment of Wilson's disease. Not surprisingly, it is the drug of first choice that is used against this rare genetic disease.
The dose of penicillamine usually given in adults is 15-40 mg / kg of body weight per day, to be taken in four divided doses one hour before, or 2-3 hours after meals and always on an empty stomach.
In children, on the other hand, the dose of drug usually used is 10-30 mg / kg of body weight, to be taken in 3-4 divided doses in the same manner as for adult patients.
In any case, the exact dosage of medicine must be established by the doctor for each patient.
Furthermore, it should be noted that - given the side effects that penicillamine can cause - its use must always take place under the strict control of the doctor.
Zinc acetate
Zinc acetate (Wilzin ®) is another drug with specific therapeutic indications for the treatment of Wilson's disease.
Zinc acts by reducing the absorption of copper in the intestine, favoring its elimination through the faeces and - consequently - preventing its accumulation in the liver and other organs and tissues.
Zinc acetate is available for oral administration as hard capsules.
The dose of medication usually given to adult patients is 50 mg, to be taken from three up to a maximum of five times a day, on an empty stomach, one hour before or 2-3 hours after meals.
In children, however, the dose of drug to be administered varies according to the age and body weight of the patients.
However, even in this case, the exact dosage of medicine must be established by the doctor on an individual basis.
If the zinc acetate therapy is prescribed in conjunction with penicillamine therapy, the two drugs should be administered with an interval of at least one hour between one and the other.
