Wilson's disease

SIGNS / SYMPTOMS

Patients with viral hepatitis may have a history of a febrile illness or blood transfusion, but otherwise the symptoms and signs may be identical.

SIGNS / SYMPTOMS

Patients with viral hepatitis may have a history of a febrile illness or blood transfusion, but otherwise the symptoms and signs may be identical.

SIGNS / SYMPTOMS

Patients with haemochromatosis may present with other features such as diabetes, skin pigmentation, arthritis, impotence in males, and cardiac enlargement with or without symptoms and signs of heart failure.

SIGNS / SYMPTOMS

Patients with alpha-1 antitrypsin (AAT) deficiency may have chronic lung disease such as emphysema occurring earlier than expected (in the 40- to 50-year-old age group) as well as liver disease.

SIGNS / SYMPTOMS

Patients may have other associated autoimmune conditions and will respond to corticosteroid therapy. However, Wilson's disease should be excluded before this diagnosis is assumed.

SIGNS / SYMPTOMS

Patients with steatohepatitis tend to be obese with clinical features of hepatitis. Wilson's disease should be excluded before this diagnosis is assumed.

SIGNS / SYMPTOMS

Patients may have a history and signs of alcohol excess. Wilson's disease should be excluded before this diagnosis is assumed, even if the patient drinks.

SIGNS / SYMPTOMS

If hepatic bouts are severe in Wilson's disease then haemolysis may occur. Haemolysis in the presence of liver disease in a person aged <40 years should prompt testing for Wilson's disease.

SIGNS / SYMPTOMS

Tremor with no other neurological symptoms of a movement disorder. May have positive family history.

Wilson's disease should be excluded before making this diagnosis, especially in all patients aged under 40 years and in many aged under 50 years.

SIGNS / SYMPTOMS

Parkinson's disease usually occurs in older people (>50 years), but the movement disorders are often identical. The diagnosis of Parkinson's disease is made on history and neurological examination.

SIGNS / SYMPTOMS

Psychiatric disease unrelated to Wilson's disease will not be accompanied by features of Wilson's disease. Wilson's disease patients with primary psychiatric disease are more likely to have early childhood problems, and these patients almost always have Kayser-Fleischer rings.

SIGNS / SYMPTOMS

Mutations in the gene for ceruloplasmin (CP) on chromosome 3 that can present with similar neurological symptoms due to iron deposition in the central nervous system.

SIGNS / SYMPTOMS

Also known as progressive familial intrahepatic cholestasis type 3. Dysfunction of the MDR3 bile canalicular transporter that results in chronic cholestatic disease with elevated urine copper.

SIGNS / SYMPTOMS

Serum ceruloplasmin and alanine aminotransferase (ALT) and aspartate aminotransferase (AST) can be elevated. Hepatic copper concentrations can also be elevated.