Wilson’s disease (hepatocerebral dystrophy, Wilson-Konovalov syndrome) is a rather rare genetic disease that is associated with impaired 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 back in 1883. Manifestations of the disease were similar to signs of multiple sclerosis, so at that time the disease was called "pseudosclerosis." An in-depth study of this problem was undertaken by the English neurologist Samuel Wilson, who in 1912 completely described the clinic of the disease in practice.
Wilson's disease: causes
As already mentioned, this disease is genetic in nature and is transmitted from parent to child in an autosomal recessive manner. Impaired copper metabolism is associated with a mutation of a gene located in the long arm of the thirteenth chromosome. It is this gene that encodes a protein of a specific form of ATPase, which is responsible for the transport of copper and its incorporation into ceruloplasmin.
The reasons for this mutation have not yet been fully studied. We 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 is from 15 to 25 years.
Wilson's disease: main symptoms
This disease can manifest itself in different ways. As a result of metabolic disorders, copper accumulates in the human body, while affecting the liver and lenticular nuclei of the diencephalon.
In patients, the disease can manifest either with hepatic or neurological symptoms. Sometimes there is also pain in the joints, intense heat and aches in the body. The accumulation of copper over time, if untreated, can lead to cirrhosis. In some cases, neurological symptoms appear 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 teenage period.
If untreated, copper accumulated in the body leads to countless disorders, including diabetes mellitus, aneurysms, atherosclerosis, and rickets.
Wilson's disease - Konovalova: 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: it will lower in the blood, since all molecules of the substance accumulate in the tissues. Sometimes a liver biopsy is also necessary . When studying samples in the liver tissue, an increased amount of copper is determined.
There is another important diagnostic point. When examining the eyes of patients on the cornea, you can see brownish rings - this is the so-called Kaiser-Fleischer symptom.
Wilson's disease - Konovalova: treatment
To date, the only effective treatment is cuprenyl, on the basis of which all existing drugs are made. This substance reduces the level of copper in the body and removes its excess. You can’t get rid of the disease forever. But such therapy allows patients to lead a normal, active life.
Unfortunately, if Wilson’s disease was discovered too late, then damage to the body, especially nerve tissue, is already irreversible. That is why it is so important to diagnose the disease in time and start treatment.