Wilson’s disease

Wilson’s disease
Wilson’s disease is an inherited disease, its cause is a violation of the accumulation and transport of copper in the body, resulting in chronic intoxication. The concentration of the protein that transports copper, cerruloplasmin, decreases in the blood. The full name of the disease sounds like Wilson-Konovalov disease, hepatocerebral dystrophy, hepatolenticular degeneration, Westphal-Wilson-Konovalov disease.

The content of the article:
Classification of Wilson’s disease
Etiology and pathogenesis of Wilson’s disease
Clinical picture of Wilson’s disease
Diagnosis of Wilson’s disease
Treatment of Wilson’s disease
Prognosis for Wilson’s disease
Prevention of Wilson’s disease
Wilson’s disease
Pathology provokes multiple hereditary diseases of internal organs and the central nervous system, especially the liver and the intermediate brain. This disease is transmitted by an autosomal recessive type. The pathological gene ATP7B (located on chromosome 13) mutates, which causes disorders.

If a person receives a defective gene from both parents, the disease begins to manifest and progress. A person with one pathological mutant gene is a carrier of the disease, the concentration of copper is deviated from the norm, but the violations are insignificant.

Diagnosis of the disease occurs at the age of 10-13 years. The disease manifests itself as mixed cirrhosis of the liver or kidney failure. Boys get sick more often. The prevalence of Villosa disease is increasing among ethnic groups where marriages between blood relatives are popular.

Classification of Wilson’s disease
Soviet neuropathologist N.V. Konovalov, who studied the pathophysiology, pathogenesis, and clinic of this disease, classified the disease by identifying five of its forms:

Abdominal: when the liver is affected, which leads to the death of the patient before the symptoms appear, it is diagnosed in childhood, the duration is up to five years.
Rigid-arrhythmogyperkinetic is a rapidly progressive form, observed in childhood, characterized by muscle rigidity, slowness of movements, formation of contractures, convulsive laughter and crying are observed, there is a delay in development.
Tremulous: observed in adulthood (20-30 years), progresses slowly (about 10 years), characterized by trembling. At the last stage, rigidity appears, anemia is observed, lethargy and monotony of speech, severe degradation of the psyche, epileptic seizures are characteristic.
Tremor-rigid is the most common form, observed in adolescence, severe rigidity and severe trembling develop, symptoms increase with excitement or physical muscle tension, accompanied by dysphagia and dysarthria, progresses for about six years.
Extrapyramidal-cortical — rare, burdened with pyramidal paresis, epileptic seizures and severe dementia due to severe softening of the cerebral hemispheres.
Etiology and pathogenesis of Wilson’s disease
An overabundance of copper leads to the strongest intoxication of the body — oxidation of cell membranes, destabilization of nuclear DNA. More than two hundred modifications of the mutating gene have been identified.

The pathogenesis of Wilson-Konovalov disease is a violation of the intake of copper into the body and its excretion. Disturbances in the normal excretion of copper from the body are associated with a shortage of P-type protein. There are also violations of the composition of ceruloplasmin, which is synthesized in the liver and includes copper in its composition. The toxification of the body due to an overabundance of copper is reflected, first of all, on the liver, where copper accumulates in especially large quantities, affecting the organ.

The next place of accumulation of copper can be called the central nervous system. The basal ganglia of the brain suffer the most, provoking severe neuropsychic disorders. Copper deposits are also visible in the cornea of the eye — the so-called Kaiser-Fleischer ring. Copper also affects the heart and joints.

Clinical picture of Wilson’s disease
Wilson-Konovalov disease is divided into two stages:

Latent (lasts about 6 years).
The stage of clinical manifestations.
The disease reveals itself at the age of 7-15 years. Based on the symptoms of the disease, there are three forms of it:

With liver damage.
With damage to the nervous system.
Mixed.
In children, the disease is most often manifested by cirrhosis of the liver, cases of Wilson’s disease are diagnosed after jaundice, anorexia, fever, kidney failure.

Mental disorders in patients are observed in adolescence, and mean that the liver is already oversaturated with copper and this trace element has begun to accumulate in the central nervous system. During this period, the patient has violations of facial expressions, coordination of movements, articulation and speech apparatus.

In some cases, symptoms of neurological and mental disorders appear. Mental disorders are associated with various phobias, aggressive behavior, but with the preservation of intellectual abilities. Some patients have hematological syndromes.

Wilson’s disease affects the skin (the presence of pigmented spots), bones become very fragile (increased injury risk), affected joints (arthritis), the endocrine system.

Diagnosis of Wilson’s disease
Diagnosis begins with a visual examination of the patient and finding out the family history of the disease:

analysis of skin discoloration (presence of pigmentation);
the presence of a yellow-brown ring on the edge of the cornea of the eye;
palpation of the liver will indicate whether there are changes in the volume of the organ.
This is followed by laboratory tests:

General and biochemical blood tests. Analysis of the amount of copper in the blood (in patients with more than 1.5 thousand milligrams per liter), dosing of ceruloplasmin.
Urine analysis for the concentration of copper in it.
Liver biopsy.
A genetic examination is also carried out, which gives the most accurate information about the patient. After that, the attending physician makes a differential diagnosis.

Differential diagnosis
A neurologist should distinguish Wilson’s disease from a number of similar diseases, for example, Parkinson’s disease and its modifications, cirrhosis of the liver, which has a distinctive nature from Wilson’s disease, various hereditary liver lesions.

Treatment of Wilson’s disease
Treatment of this disease is aimed at limiting the intake of copper into the patient’s body and reducing accumulated reserves.

For this purpose, various methods of treatment are used:

A non—drug method is a change in the patient’s lifestyle (diet, refusal of alcohol and hepatotoxic medications). Foods with a high copper index (meat, seafood, dried fruits, mushrooms, chocolate, some types of groceries, fruits) are excluded from the diet.
Medical treatment. It begins from the moment of diagnosis and until the end of the patient’s life. The continuity and quality of medical treatment is the key to improving the survival rate of patients. Kuprenil (copper chelator) is the main drug in the treatment of Wilson’s disease. With an increase in the dose of the drug, copper is excreted in the urine. There are certain doses and the specifics of taking the drug, which is established based on the analysis of the patient’s condition and the course of his illness.
Surgical treatment (transjugular intrarenal bypass surgery).
Prognosis for Wilson’s disease
The prognosis depends on timely treatment. Timely detection of the disease and its adequate treatment can lead to the complete disappearance of symptoms. But women with this disease rarely become mothers. Delayed treatment or its absence usually leads to a fatal outcome. Sometimes a patient needs a liver transplant.

Prevention of Wilson’s disease
There are no exact recommendations for the prevention of Wilson’s disease. Relatives of the patient should undergo a genetic examination and periodically consult a neurologist.

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