What is hepatolenticular degeneration and its symptoms?

The disease of Konovalov-Wilson is a relatively rare and exotic disease, but it should also be attributed to extremely severe in its course. This multisystem disease occurs with the defeat of many organs and systems, but first of all, the liver and the central nervous system( the brain) suffer.

The most common disease in countries in which closely related marriages are allowed( inbreeding), which is why autosomal recessive transmission is sufficient for its development. In general, male and adolescent teenagers are susceptible to this disease.

The second name for this disease is hepatolenticular degeneration. This hereditary disease develops due to violations of the biosynthesis of ceruloplasmin and the delivery of copper, which leads to an excessive content of these substances in all tissues of the body.

Ceruloplasmin refers to complex proteins that contain copper in their composition. Most of it is in the blood plasma. The main function of this protein is transportation of copper and participation in the metabolism of iron. If the biosynthesis of ceruloplasmin is disrupted, then toxic deposits of iron and copper occur in the liver, brain, pancreas.

Normally, about 3-4 mg of copper is fed with food, which is absorbed in the small intestine and enters the liver. In the liver, copper binds to ceruloplasmin. This complex then enters the bloodstream and is selectively captured by the organs. Excretion( excretion of metabolic products) of copper occurs with bile. A small part of the copper remains circulating in the albumin-bound form, and its excretion occurs in the urine.

In hepatolenticular degeneration, the synthesis of ceruloplasmin decreases, the excretion of copper with bile decreases, respectively, these substances remain in the body in an increased amount and have a toxic effect on it.

In addition, because of a decrease in the activity of ceruloplasmin, there is no delivery of copper in sufficient quantities to the enzymes responsible for tissue respiration, the organs of hematopoiesis. In addition, ceruloplasmin is necessary for removing copper from the body, and with this disease, its insufficiency is observed and, therefore, copper remains in the body. As a result, there is an increased accumulation of copper in the liver, kidneys, brain and cornea of ​​the eye.

Symptoms of hepatolenticular degeneration

The main symptoms of the disease include liver and central nervous system damage. Than in later terms the disease develops, the slower the flow, however, it also means large changes in the brain and liver.

It is very characteristic of the presence of hepatitis in the active form, which is accompanied by jaundice, the blood always records a high activity of aminotransferases( responsible for the connection between protein and carbohydrate metabolism) and hypergammaglobulinemia( increased number of gamma globulins).

As the process progresses, hepatitis passes into cirrhosis of atrophic type, hypertension develops in the portal vein system. In connection with a significant decrease in liver size, destruction of hepatocytes and their inability to perform their basic functions, hepatic failure rapidly develops.

Symptoms of hepatolenticular degeneration are also present in the nervous system. The main location of copper deposits in the brain is lenticular pharmacy or lenticular nuclei, as well as in subcortical structures and the cortex of the brain. As a rule, this is manifested by tremor of hands - from barely noticeable to obvious and very strong. In this case, not only the hands tremble, the body literally shudders in convulsions. This manifestation of the disease severely disrupts the habitual rhythm of life, because in especially severe cases, patients can neither read nor write, nor independently eat and serve themselves.

However, this is not the only symptoms of the disease. The rigidity of the muscles of the entire body develops. This is manifested by increased tonus and deformity of the limbs due to muscular spasm. Movements become slow, and many of them are inaccessible to patients. Paralysis or hyperkinetic disorders may develop in the form of convulsions or slow involuntary movements of the hands, trunk, legs. Speech in such patients is monotonous, indistinct, because of the toxic effect on brain structures, intellect, memory, behavior change.

From the kidneys manifested tubular pathology, which occurs due to acidification of the body and reducing bicarbonates. As a result, in the urine there are strong changes in the form of the appearance of glucose, phosphates, an increased amount of amino acids - phenylalanine, tyrosine, leucine, valine.

In more distant stages, copper begins to be deposited along the edge of the cornea, forming a specific symptom - the Kaiser-Fleischer ring. Outwardly it looks like a yellow-green or olive ring around the periphery of the iris. First, a semicircle appears on the upper edge of the iris, then downwards, gradually they close and form a circle. In the early stages, the ring can be seen only with the help of a slotted lamp, but in later terms it can be seen with an unaided eye.

Treatment of hepatolenticular degeneration

As for the therapeutic measures, they can be divided into two groups - medical nutrition and medications.

Therapeutic diet( diet number 5), as well as drug treatment, patients should adhere to the rest of their lives.

Among all products, it is recommended to avoid those that contain copper. The largest number is in pork kidneys, spinach, beef and pork liver, buckwheat, whole wheat grains, various nuts and chocolate.

In most cases, a positive effect is observed from treatment with penicillamine or unithiol. These drugs are related to complexons, which are used as antidotes. They have anti-inflammatory, immunosuppressive and detoxifying activity, and perfectly bind heavy metals, including copper.

In most cases, after such treatment, there is a marked improvement in the state, and sometimes stabilization of the condition, up to the complete disappearance of all symptoms.

Overall, the prognosis of the disease is relatively satisfactory. Unfavorable outcome is possible with the development of severe hepatic insufficiency. Also, in the absence of treatment, a fatal outcome may occur due to the development of neurologic disorders on average in 7-8 years. The main cause of death is the attachment of concomitant diseases from the gastrointestinal tract, bleeding and increased pressure in the portal vein system.