What is Wilson's disease (Hepatolenticular degeneration)?

From the Guidelines

Wilson's disease is a rare genetic disorder characterized by an autosomal recessive defect in copper excretion, leading to accumulation of copper in the liver, brain, and other vital organs, resulting in liver disease, neurological dysfunction, and other complications. This condition is caused by mutations in the ATP7B gene, which normally helps remove excess copper from the body 1. The clinical presentation of Wilson's disease can vary widely, but key features include liver disease and cirrhosis, neuropsychiatric disturbances, Kayser–Fleischer rings in Desçemet’s membrane of the cornea, and acute episodes of hemolysis often in association with acute liver failure 1.

Some of the main complications of Wilson's disease include:

• Liver disease and cirrhosis
• Neurological dysfunction
• Hemolytic anemia
• Renal involvement
• Psychiatric symptoms

Treatment of Wilson's disease involves lifelong copper-reduction therapy, typically starting with chelating agents like penicillamine or trientine to remove accumulated copper, and zinc acetate as maintenance therapy to block intestinal copper absorption 1. Patients with Wilson's disease should be treated promptly and consistently to prevent liver failure, neurological problems, and psychiatric symptoms, and to allow them to live normal lives. Regular monitoring of liver function, copper levels, and neurological status is essential, and genetic testing for family members is recommended since siblings of affected individuals have a significant chance of also having the condition 1.

In terms of management, the following are key points:

• Lifelong copper-reduction therapy
• Chelating agents like penicillamine or trientine
• Zinc acetate as maintenance therapy
• Low-copper diet
• Regular monitoring of liver function, copper levels, and neurological status
• Genetic testing for family members

From the FDA Drug Label

Wilson’s disease (hepatolenticular degeneration) occurs in individuals who have inherited an autosomal-recessive defect that leads to an accumulation of copper far in excess of metabolic requirements The excess copper is deposited in several organs and tissues, and eventually produces pathological effects primarily in the liver, where damage progresses to postnecrotic cirrhosis, and in the brain, where degeneration is widespread Copper is also deposited as characteristic, asymptomatic, golden-brown Kayser-Fleischer rings in the corneas of all patients with cerebral symptomatology and some patients who are either asymptomatic or manifest only hepatic symptomatology

Wilson's disease (Hepatolenticular degeneration) is an autosomal-recessive genetic disorder characterized by an accumulation of excess copper in the body, leading to damage in organs such as the liver and brain. Key features include:

• Accumulation of copper due to an inherited defect
• Copper deposition in organs like the liver and brain
• Pathological effects including postnecrotic cirrhosis in the liver and widespread degeneration in the brain
• Characteristic Kayser-Fleischer rings in the corneas of some patients 2

From the Research

Definition and Cause of Wilson's Disease

• Wilson's disease, also known as Hepatolenticular degeneration, is an autosomal recessive disorder related to copper metabolism 3.
• The clinical symptoms are due to copper deposition in various tissues, including liver, brain, kidney, cornea, and others 3.

Effects of Copper Deposition

• Copper deposition in tissues leads to liver or brain injury due to accumulation of copper 4.
• The disease can result in excessive copper deposition in the liver and the brain, affecting children and young adults 5.

Treatment and Management

• The key strategy of treatment is to reduce the amount of copper in the liver and other tissues by administering both copper-chelating agents and a low copper diet 3.
• Treatment options include chelating agents (penicillamine, trientine) and zinc salts, which seem to be very effective 6, 4.
• Liver transplantation has a well-defined role in Wilsonian acute hepatic failure according to the prognostic score 4.

Goals of Treatment

• The therapeutic goal is the removal of toxic free copper (non-ceruloplasmin, but albumin bound copper) 7.
• The goal of actual drug therapy in Wilson disease is the normalization of free copper in serum 7.
• Treatment should start immediately after diagnosis, even in clinically presymptomatic cases, and the patient should be treated for life 6.