History and exam

Key diagnostic factors

common

elevated serum aminotransferases

Elevated aspartate aminotransferase (AST) and alanine aminotransferase (ALT) are present in 40% to 60% of patients at presentation.[24] Patients may be asymptomatic apart from incidentally detected elevated serum aminotransferases.

history of hepatitis

Previous episode of hepatitis common with hepatic presentation.

acute liver failure

Up to 20% of people with Wilson disease present with acute liver failure, with symptoms of jaundice, hepatic encephalopathy, coagulopathy, ascites, and renal failure.[24]

behavioral abnormalities

Patients often have abnormal behavior; abnormalities include temper tantrums, anxiety, loss of memory, inability to focus on tasks, impulsiveness, and disinhibition.[24][27][28] Neuropsychiatric symptoms usually develop in the second or third decade of life, but have been reported in children under 10 years.[25]

presence of Kayser-Fleischer rings

Kayser-Fleischer (KF) rings are gold-brown pigments representing copper deposition in the membrane of Descemet of the cornea. They usually appear in superior and inferior portions of the cornea and then become circumferential as copper deposition progresses.[24] KF rings are present in 95% of patients with neurologic presentations and in 44% to 62% of patients with hepatic presentations.[5]​ They are best seen using slit-lamp biomicroscopy.

tremor

May be of any type: fine, intentional, or wing-beating.

dysarthria

Speech may be slurred or hypokinetic, and may exhibit echolalia but not of a specific character.

dystonia

Dystonia and rigidity of any part of the body but most often the hands. This can cause postural and gait abnormalities. A dystonic smile may be seen.

incoordination

Interferes with such things as handwriting, buttoning, difficulty walking, difficulty rising from a chair, and eating.

sloppy or small handwriting

Due to incoordination, handwriting is often sloppy and may be small (micrographia).

Other diagnostic factors

common

cognitive impairment

Patients with Wilson disease may have cognitive impairment.[27][28]

depression

Patients with Wilson disease often have depression.[27][28]

personality change

Patients with Wilson disease often have personality change.[27][28]

dysdiadochokinesis

Slowness in alternating hands from prone to supine position.

abnormal extraocular movements

Esotropia (in-turning of the eyes), abnormal ocular pursuit, abnormal saccadic (rapid, intermittent) eye movements, diplopia (double vision), and distractibility of gaze and fixation.

normal sensation, muscular strength, and reflexes

These are all normal on examination in Wilson disease.

uncommon

history of gastrointestinal bleeding

Due to portal hypertension and subsequent esophageal varices.

jaundice

May be seen with hepatitis, acute liver failure, or decompensated cirrhosis.

liver tenderness

May be seen with hepatitis.

spider angiomata

May be seen with cirrhosis.

gynecomastia

May be seen with cirrhosis.

ascites

May be seen with cirrhosis.

peripheral edema

May be seen with cirrhosis.

bruising

May be seen with cirrhosis due to thrombocytopenia from portal hypertension.

encephalopathy

Mental fuzziness; difficulty performing simple mental tasks. May be seen with cirrhosis.

dysphagia

May be seen with neurologic/psychiatric presentation.

Risk factors

strong

ATP7B gene mutation

Determined by genetic testing, with patients possessing two mutated copies of the ATP7B gene. Penetrance is almost 100%.

family history of Wilson disease

Wilson disease is inherited in an autosomal-recessive manner. Most patients are compound heterozygotes.[1][2][11]​​[18][19]​​

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