Wilson's disease is a dangerous congenital disease of copper metabolism, which is usually firstly diagnosed in childhood or adolescence.
Wilson's disease is related to a disorder of copper metabolism. Copper is a trace element that is essential for the organism, but it must be kept in small quantity. There is a crucial protein known as ceruloplasmin, which binds and transports copper molecules and facilitates its excretion into the bile and out of the body. The patient's level of ceruloplasmin is significantly reduced, the excretion of copper is disrupted and the copper accumulates in organs and tissues causing their damage.
Liver is the first affected organ. The accumulating copper causes chronic inflammation of the liver tissue. Liver damage manifests with a variety of symptoms including jaundice, nausea, loss of appetite and fatigue (very similar to bouts of Gilbert's syndrome!). Jaundice develops due to liver damage and increased destruction of red blood cells. The liver of the patient is frequently enlarged. Very serious complication is gradual development of liver cirrhosis with complications such as portal hypertension, liver cancer and liver failure.
Note: The jaundice is caused due to accumulation of a pigment bilirubin, which is formed from destroyed hemoglobin (blood pigment). Bilirubin is metabolized by healthy liver and excreted into the bile. Accumulation of bilirubin turns the tissues and mucous membranes yellow.
Brain damage usually occurs later and it includes a series of non-specific neurological symptoms including confusion, dementia, personality changes, swallowing disorders, muscle paralysis, gait disorders and epileptic seizures.
The copper is deposited on the edges of the cornea and it forms a visible Kayser-Fleischer ring.
The diagnosis is probable in a young person with signs of liver inflammation (elevated liver tests) and with some of other above-mentioned symptoms. In addition, we usually confirm decreased level of serum ceruloplasmin and increased copper excretion into urine. The excretion into urine is an emergency form of copper excretion when it can not be properly excreted by bile. The definitive diagnosis is done based on liver biopsy, where we find excessively increased copper content in the liver tissue. Liver biopsy is done with a special needle through the abdominal wall.
The therapeutic approach includes two major ways.
First, it is necessary to reduce the copper intake and avoid food with high amount of copper (nuts, chocolate, offal, seafood, etc.). Further, we facilitate the copper excretion from the body. There are special chelating agents (e.g. the penicillamine) that bind the copper into their molecules and help to remove it from the organism. It is also advisable to have an adequate zinc intake, because the zinc improves bile secretion of copper.
When the diagnosis is not made in time or when the therapy is ineffective, the only option is chronic treatment of liver cirrhosis and liver transplantation.
The prognosis depends on earliness of the diagnosis and the adherence of the patient towards the therapy. When the disease is diagnosed in time and the patient cautiously cooperates, the prognosis is good. Otherwise, the course of the disease is fatal.