Diseases and defects

Wilson's disease

Wilson's disease is a hepatolenticular degeneration, which is genetically determined. It causes a mutation of a gene that is responsible for a protein involved in copper metabolism.

Resultant defect in the gene leads to disturbance of copper metabolism. Copper  accumulates since the beginning of life of the patient and stores primarily in the liver and the brain, eye corneas and kidneys. As a result, of all these organs are damaged.

Symptoms of this disorder are: hepatic failure (abdominal dropsy, jaundice), neurological and mental symptoms (hands and arms trembling, imbalance, speech and swallowing disorder, salvation, epileptic seizures, involuntary movements, selective food appetite, muscles stiffness and muscles spasms). Wilson's disease is often confused with schizophrenia, mainly due to behavioral and personality disorders. The first symptoms of Wilson's disease usually occur at the age of 5 - 40. The immediate and characteristic symptom of this disorder is an orange-brown band evident in the cornea of the eye of the patient. This border is called Kayser-Fleischer ring.

Wilson's disease diagnosis is based on laboratory tests (low copper level, ceruloplasmin in serum) and ophthalmological examination, during which Kayser-Fleischer ring can be observed. You can also use an USG, which shows liver or spleen enlargement, as well as computer tomography and magnetic resonance representing changes in the patient’s brain.

Wilson's disease can be treated only pharmacologically. The patient is given drugs to lower copper level in order to prevent its re-accumulation, supporting its elimination, as well as reducing its absorption in the intestine (penicillamine or triethylenetetramine). In addition, diet low in copper is also recommended (elimination of fish, giblets, chocolate, nuts, mushrooms). Meals rich in copper can be eaten only in conjunction with milk proteins. In the case of late diagnosis, and thus, damaged liver, it is necessary to transplant the organ.

Treatment of Wilson's disease in most cases, is progressing well and all the symptoms of the disorder disappear after drug administration. Person suffering from this type of gene defect should not forget about the supportive therapy, which should be applied to the end of life. It is based largely on taking zinc which inhibits copper absorption in the intestine.