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Wilson Disease – Causes, Symptoms And Treatment

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Wilson Disease

Wilson disease is a genetic disorder with autosomal dominant transmission, characterized by deposition of copper in tissues and by the appearance of liver, neurological, psychiatric, eyes and other organs (kidney, bone, skin) symptoms.

Causes:

In Wilson disease two major anomalies occur :

  1. Decreased synthesis of ceruloplasmin, a serum protein that transports copper.
  2. Decreased biliary copper removal.  Wilson disease dose not cause a high absorption of copper, but a decrease in biliary elimination, which explains the positive copper balance.
Wilson Disease

Wilson Disease

Copper is found in plasma in two forms, linked to ceruloplasmin (90 micrograms%) and free (10 micrograms%). In Wilson disease, copper rises much above this concentrations, broadcasting from the vascular space into the tissues, which will cause cell damage. The liver is the first organ that accumulates copper.

Symptoms:

In half of patients with Wilson disease symptoms first appear in adolescence, only in 1% of patients the onset is after 50 years.

Classic triad of symptoms in Wilson disease is:

  1. Liver. Are the first events that occur, but are not specific for Wilson disease. Thus, there are, hepatomegaly, splenomegaly, jaundice, vascular asterisks, ascites and other complications of cirrhosis. Acute fulminant hepatitis with hemolytic anemia is another way that disease can onset, with progressive jaundice, ascites, liver and kidney failure. The phenomenon is similar to acute copper poisoning, the prognosis is severe and death occurs within days.
  2. Neuropsychological. Occur in young adults and are represented by coreiform movements, Parkinson’s syndrome, tremors which are worse in deliberate moves. Mental changes may occur suddenly and are manifested by the mismatch in the community, deterioration of intellectual capacity. More rarely may appear: anxiety or schizophrenic events.
  3. Eye. Is due to the deposit of copper at the periphery of the cornea and appears as a gray-brown color ring or greenish ring called Kayser-Fleischner ring.
Wilson disease

Wilson disease

Diagnosis:

Diagnosis is based on physical signs and paraclinical explorations. Paraclinical examinations are:

  • Decreased creuloplasmin, normal 20mg% -40 mg%;
  • Increased copper excretion in urine, its normal value is 40 microgram/24h, and over 100 microgram/24h Wilson disease;
  • Increased serum copper;
  • Increased amount of copper in the liver;
  • Nonspecific alteration of liver tests.

Clinical forms:

Are describe three clinical forms of Wilson disease, according to clinical manifestations:

  1. Hepatic form of Wilson disease;
  2. Hepato-neurological form of Wilson disease;
  3. Neurological form of Wilson disease.
Wilson disease

Wilson disease

Evolution:

Untreated, Wilson disease has a rapid evolution. Under treatment, liver damage and neurological manifestations are obviously improved. In patients with untreated Wilson disease death occurs after 15 years. Neurologic form is the one with the most severe prognosis.

Wilson disease

Wilson disease

Treatment:

Wilson disease treatment is focused on the following:

  1. Diet. Copper intake should be  decrease to 1.5 mg / day, by excluding copper-rich foods (shellfish, liver, nuts, cocoa, vegetables and water with high copper content).
  2. Drugs. D-penicillamine is used as a chelating agent, which reduces toxic free copper in the blood and increases its urinary elimination. Is associated with vitamin B6. The administration of zinc reduces intestinal absorption of copper.
  3. Liver transplant. It is indicated in two situations:
  • Acute fulminant hepatitis associated with hemolysis;
  • Decompensated liver cirrhosis which is not responding to chelating agents.