Wilson's disease: causes, symptoms, treatment and diagnosis

Wilson's disease (hepatocerebral dystrophy, Wilson-Konovalov syndrome) is a rather rare genetic disease that is associated with a violation of copper metabolism in the body and is accompanied by damage to the liver and central nervous system.

For the first time such symptoms were recorded as far back as 1883. Manifestations of the disease were similar to those of multiple sclerosis, so at that time the disease was called "pseudosclerosis." A profound study of this problem engaged the English neurologist Samuel Wilson, who in 1912 had a practical description of the clinic of the disease.

Wilson's disease: causes

As already mentioned, this disease is of a genetic nature and is transmitted from the parent to the child by an autosomal recessive type. The violation of the metabolism of copper is associated with a mutation of the gene located in the long arm of the thirteenth chromosome. It is this gene that encodes a protein of a specific form of ATPase that is responsible for the transport of copper and its incorporation into ceruloplasmin.

The causes of this mutation have not been fully explored yet. One can only say that Wilson's disease is much more often diagnosed among peoples where marriages between close relatives are common. In addition, this syndrome is much more often diagnosed among men and boys, whose age ranges from 15 to 25 years.

Wilson's disease: the main symptoms

This disease can manifest itself in different ways. As a result of metabolic disturbances, copper accumulates in the human body, while damaging the liver and lenticular nuclei of the midbrain.

In patients, the disease can manifest as either liver or neurological symptoms. Sometimes there is also pain in the joints, intense heat and body aches. Accumulation of copper with time in the absence of treatment can lead to cirrhosis of the liver. In some cases, the neurological symptoms are manifested first-a change in behavior and emotional state, as well as tremor. Unfortunately, quite often the signs of the disease are perceived as manifestations of the adolescent period.

In the absence of treatment, the copper accumulated in the body leads to an endless number of disorders, including diabetes mellitus, aneurysms, atherosclerosis and rickets.

Wilson-Konovalov's Disease: Diagnosis

Diagnosis of this disease must necessarily include a biochemical blood test. During a laboratory study of a blood sample, special attention is paid to the level of copper: in the blood, it will decrease, since all the molecules of matter accumulate in the tissues. Sometimes it is necessary and liver biopsy. When studying the samples, an increased amount of copper is detected in the hepatic tissue.

There is one more important diagnostic moment. When examining the eyes of patients on the cornea, you can see brownish rings - this is the so-called Kaiser-Fleischer symptom.

Wilson-Konovalov disease: treatment

To date, the only effective treatment is kurenyl, on the basis of which all existing preparations are manufactured. This substance reduces the level of copper in the body and removes its excess. It is impossible to get rid of the disease forever. But such therapy allows patients to lead a normal, active life.

Unfortunately, if Wilson's disease is discovered too late, then damage to the body, especially nervous tissues, is irreversible. That is why it is so important to diagnose the disease in time and start treatment.