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Wilson-Conovalov disease
Last reviewed: 12.07.2025
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Wilson-Konovalov disease (hepatolenticular degeneration) is a rare hereditary disease, predominantly of young age, which is caused by a disorder in the biosynthesis of ceruloplasmin and copper transport, leading to an increase in copper content in tissues and organs, primarily in the liver and brain, and is characterized by cirrhosis of the liver, bilateral softening and degeneration of the basal nuclei of the brain, and the appearance of greenish-brown pigmentation along the periphery of the cornea ( Kayser-Fleischer ring).
The disease was first described by S. A. Kinnier Wilson in 1912 as "a definite symptom complex, the main manifestations of which are generalized tremor, dysarthria and dysphagia, muscular rigidity and hypertonia, exhaustion, spastic contractions, contractures, and heightened emotionality. The mental symptoms may be transient and resemble those of toxic psychosis, but are less severe and more chronic, and include a general narrowing of the mental horizon, some absent-mindedness, or submissiveness without delusions or hallucinations. They do not necessarily progress to the same extent as the neurological symptoms. In some cases of the disease the mental symptoms are very mild or absent" (Wilson, 1912). Although Wilson described most of the clinical manifestations of the disease, he did not pay attention to liver damage and abnormal corneal pigmentation. The latter develops as a result of copper deposition in the cornea and is called the Kayser-Fleischer ring.
Causes of Wilson-Konovalov disease
Hepatolenticular degeneration is a hereditary disease and is transmitted in an autosomal recessive manner.
The disease occurs with a frequency of 1:30,000 of the population. The abnormal gene responsible for the development of the disease is localized in the region of chromosome XIII. Each patient is a homozygous carrier of this gene. The disease is widespread throughout the world, but is more common among Jews of Eastern European origin, Arabs, Italians, Japanese, Chinese, Indians and in populations where consanguineous marriages are common.
Hepatolenticular degeneration is caused by a mutation in the copper transporter gene located on chromosome 13. The disease usually manifests itself in the 2nd or 3rd decade of life, primarily with neurological and mental symptoms or symptoms associated with liver damage (each of these groups of symptoms predominates in a third of cases). Sometimes symptoms appear in the first decade of life, very rarely in the sixth.
Causes of Wilson-Konovalov disease
[ Pathogenesis of Wilson-Konovalov disease
In hepatolenticular degeneration, there is a genetic defect in the synthesis of ceruloplasmin (copper oxidase) in the liver, which is related to a2-globulins. The importance of ceruloplasmin is that it keeps copper in the blood in a bound state. The body receives about 2-3 mg of copper per day with food, about half of this amount is absorbed in the intestine, enters the blood, binds to ceruloplasmin, is delivered to tissues and is included in specific apoenzymes.
Symptoms of Wilson-Konovalov disease
The clinical picture is characterized by diversity, which is due to the damaging effect of copper on many tissues. The predominant damage to one or another organ depends on age. In children, this is mainly the liver (hepatic forms). Later, neurological symptoms and mental disorders (neuropsychic forms) begin to prevail. If the disease manifests itself after 20 years, then patients usually have neurological symptoms. A combination of symptoms of both forms is possible. Most patients aged 5 to 30 years already have clinical manifestations of the disease or a diagnosis has been made.
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Diagnosis of Wilson-Konovalov disease
Serum ceruloplasmin and copper levels are usually decreased. Differential diagnosis is performed with acute and chronic hepatitis, in which the ceruloplasmin level may be decreased due to impaired synthesis in the liver. Malnutrition also contributes to a decrease in ceruloplasmin levels. When taking estrogens, oral contraceptives, with biliary obstruction, and during pregnancy, ceruloplasmin levels may increase.
Treatment of Wilson-Konovalov disease
The drug of choice is penicillamine. It binds copper and increases its daily excretion in urine to 1000-3000 mcg. Treatment begins with the oral administration of penicillamine hydrochloride at a dose of 1.5 g / day in 4 doses before meals. Improvement develops slowly; at least 6 months of continuous administration of the drug at this dose is required. If there is no improvement, the dose can be increased to 2 g / day. In 25% of patients with damage to the central nervous system, the condition may initially worsen and only then signs of improvement appear. The Kayser-Fleischer ring decreases or disappears. Speech becomes clearer, tremor and rigidity decrease. Mental status normalizes.
Forecast
Without treatment, Wilson's disease progresses and leads to the death of patients. The greatest danger is when the disease remains undiagnosed and the patient dies without receiving treatment.