Wilson's disease

Not to be confused with Wilson's temperature syndrome, an alternative medicine concept.

Wilson's disease
Synonyms	Wilson disease, hepatolenticular degeneration
Pronounce	N/A
Field	Endocrinology
Symptoms	Swelling of the legs, yellowish skin, personality changes
Complications	N/A
Onset	Age 5 to 35
Duration
Types	N/A
Causes	Genetic
Risks
Diagnosis
Differential diagnosis	Chronic liver disease, Parkinson's disease, multiple sclerosis, others
Prevention
Treatment	Dietary changes, chelating agents, zinc supplements, liver transplant
Medication
Prognosis	N/A
Frequency	~1 per 30,000
Deaths

Wilson's disease

Autosomal recessive inheritance

Wilson's disease

Kayser-Fleischer ring

Sunflower cataract

Copper metabolism

Wilson's disease, an autosomal recessive genetic disorder, is characterized by an abnormal accumulation of copper within the body. Copper deposition primarily occurs in the liver and brain, leading to a variety of symptoms. While the condition typically manifests symptoms related to liver and brain function, individuals may exhibit a spectrum of clinical presentations due to the systemic nature of copper distribution.

Clinical Presentation

Liver-related symptoms often serve as early signs of Wilson's disease and may include vomiting, weakness, abdominal fluid accumulation (ascites), leg swelling (edema), jaundice, and pruritus. Neurological and psychiatric symptoms often appear later and are sometimes the only symptoms in adults. These may include tremors, rigidity, dysarthria, personality changes, anxiety, and hallucinations. The disease's clinical heterogeneity often leads to challenges in its diagnosis, particularly in those with predominantly psychiatric symptoms.

Genetic Basis

The root cause of Wilson's disease is a mutation in the ATP7B gene, responsible for encoding the Wilson disease protein. This protein plays a critical role in regulating cellular copper transport. Given the autosomal recessive pattern of inheritance, an individual must receive a defective copy of the ATP7B gene from each parent to manifest the disease.

Diagnosis

Diagnosing Wilson's disease can be challenging due to its varied presentations and the need for a high degree of clinical suspicion. The diagnostic process often involves a combination of blood tests (measuring ceruloplasmin levels and serum copper), 24-hour urine copper tests, and liver biopsy for hepatic copper content. Genetic testing could help in confirming the diagnosis and screening at-risk family members.

Management

Management of Wilson's disease involves life-long treatment, mainly focusing on reducing the copper load in the body. This usually involves dietary modification to reduce copper intake, alongside pharmacological therapy. Patients are often advised to avoid foods high in copper, such as shellfish, liver, mushrooms, nuts, and chocolate, and to avoid using copper-containing cookware.

Medications used in the management of Wilson's disease include chelating agents like trientine and D-penicillamine that bind copper, promoting its excretion, and zinc supplements, which inhibit the absorption of copper from the gut. In cases with advanced liver disease, liver transplantation may be indicated, which not only resolves the liver disease but also corrects the copper metabolism defect.

Epidemiology

Wilson's disease has an estimated prevalence of 1 in 30,000 individuals. Symptoms can begin at any age but typically present between ages 5 and 35. The condition affects both sexes equally. The condition was first described in 1854 by Friedrich Theodor von Frerichs and was later named after Dr. Samuel Wilson, who provided detailed descriptions in 1912.

Gallery

• 
  Kayser-Fleischer ring
• 
  Kayser-Fleischer ring
• 
  Basal ganglia and related structures
• 
  Ceruloplasmin protein

See also

• Genetic disorders
• Liver disease
• Neurological disorders

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