An overview of Wilson’s Disease, also known as hepatolenticular degeneration, a rare genetic disorder characterised by the accumulation of copper in the body’s tissues.
Wilson’s Disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene (ATP7B) – one from each parent – to develop the disorder. The ATP7B gene is responsible for encoding a copper-transporting protein crucial for the proper regulation of copper levels in the body. Mutations in this gene lead to impaired copper transport, resulting in the toxic accumulation of copper in various tissues, particularly the liver, brain, and cornea. It is fatal unless detected, diagnosed and treated before toxic levels of copper develop.
Wilson’s Disease affects about one in 30,000 people worldwide.
Symptoms
Wilson’s Disease has a wide range of clinical manifestations, and the age of onset can vary. Symptoms can show up neurologically, as psychiatric conditions or liver disease, or a combination of all three. Common features include:
- Hepatic Symptoms: Liver conditions are often the first sign and may include hepatomegaly (enlarged liver), jaundice, and signs of liver dysfunction. In severe cases, cirrhosis can develop. The liver is the first part of the body affected by Wilson’s Disease, and, in around 50% of cases, the only part affected.
- Neurological Symptoms: Copper accumulation in the brain can lead to various neurological symptoms, such as tremors, dysarthria, dystonia, and psychiatric disturbances. Some individuals may develop a movement disorder known as Wilson’s disease-associated neurologic disability (WDAND).
- Ocular Symptoms: Deposits of copper in the cornea result in a characteristic golden-brown ring called Kayser-Fleischer rings, or sunflower cataracts, which is a diagnostic feature of Wilson’s disease.
- Renal Involvement: Copper buildup in the kidney can lead to renal dysfunction in some cases.
Diagnosis
Relevant diagnostic tests include blood ceruloplasmin levels, urine copper, eye tests and liver biopsies. Genetic testing can find and confirm mutations in the ATP7B gene.
Treatment
The primary goal of Wilson’s disease treatment is to reduce copper accumulation and manage symptoms. Treatment is lifelong and includes which help remove excess copper from the body. In cases of advanced liver disease, transplantation may be necessary. Medications can be prescribed to manage specific symptoms, such as anti-Parkinsonian drugs for movement disorders.
Future therapies that may eradicate the need for lifelong drug regimens include gene therapy and antisense technology.
Summary
Wilson’s Disease is a complex disorder that requires a multidisciplinary approach for diagnosis and management. Early detection and intervention are crucial for preventing irreversible organ damage. Ongoing research into the genetics and pathophysiology of Wilson’s Disease aims to improve diagnostic methods and treatment options, providing hope for better outcomes for individuals affected by this rare condition.
