Wilson-Konovalov disease

Wilson-Konovalov disease (hepatolenticular degeneration) is a fairly rare hereditary disease in which defective excretion of copper with bile leads to its accumulation, in particular in the liver and brain. 

The disease is caused by mutations of the ATP7B gene.

With food, 2-5 mg of copper enters the body per day. Copper is absorbed in the intestine, enters the liver, where it binds to ceruloplasmin, circulates in the blood in a bound state, from where it is selectively captured by organs that need it, and is excreted with bile. Thus, in the occurrence and development of Wilson-Konovalov disease, a leading role is played by a imbalance between the intake and release of copper. 

The first manifestations of the disease can occur at any age, although in most patients the disease manifests itself at the age of 5 to 35 years. 

The most common clinical manifestations are liver damage or neuropsychiatric disorders.
An asymptomatic course is also possible, which is most often detected by family screening.

Liver damage always precedes damage to other organs and systems, however, only in 45-50% of patients, usually in childhood, the disease is characterized by clinically obvious signs of liver damage, in other 45-50% of patients in the presence of latent liver damage, manifests neurological symptoms

The features of the clinical course of the disease are a long asymptomatic period and pronounced polymorphism of the course.

Liver damage occurs in three main ways:

  • by type of chronic hepatitis;
  • according to the type of cirrhosis of the liver;
  • according to the type of fulminant liver failure. 

Signs of liver disease are nonspecific, but any liver disease of unknown origin should be considered as Wilson-Konovalov disease until proven otherwise. Wilson's disease is included in the differential diagnosis of any liver disease in young patients with hepatitis.

In the MCSC named after A.S. Loginov, you can undergo an examination and reliably find out if you have Wilson-Konovalov disease. Our Center is a leading institution in Russia, which has been developing methods for the diagnosis and treatment of liver diseases in adults for more than 50 years.

Fibroscanning is carried out in our Center on a special device. It allows you to quantify both the stage of fibrosis/cirrhosis and the degree of fatty liver (steatosis) at the same time. This method is suitable for every patient.

You can make an appointment for a consultation and research by calling the call center +7 (495) 304-30-39.

GBUZ Moscow Clinical Scientific Center named after Loginov MHD