What are the Signs & Symptoms of Wilson’s Disease? | Think Wilson
Symptoms & manifestations of Wilson’s disease in the liver, brain, & eyes

Hepatic dysfunction: reported as the initial clinical manifestation in ~45% of patients10,11

Neurologic dysfunction: reported as the initial clinical manifestation in ~40−60% of patients1,10

Psychiatric manifestations: reported to affect 30−40% of patients at diagnosis12

Kayser–Fleischer rings: present in 10−90% of patients8

Overview of Wilson disease manifestations

Wilson disease can affect multiple organ systems, including:1-3

  • Hepatic
  • Neurologic
  • Psychiatric
  • Ophthalmologic
  • Cardiovascular
  • Cutaneous
  • Hematologic
  • Renal
  • Gynecologic
  • Musculoskeletal

Read on to learn more about the most common manifestations seen in patients with Wilson disease.

  • Hepatic dysfunction: reported as the initial clinical manifestation in ~45% of patients10,11
  • Neurologic dysfunction: reported as the initial clinical manifestation in ~40−60% of patients1,10
  • Psychiatric manifestations: reported to affect 30−40% of patients at diagnosis12
  • Kayser–Fleischer rings: present in 10−90% of patients8

Hepatic manifestations of Wilson disease

A broad range of hepatic manifestations can occur in Wilson disease and can differ between pediatric patients and adult patients.13,14 Hepatic manifestations can result in acute liver failure, requiring liver transplantation in some patients.4

Common hepatic manifestations reported in adults with Wilson disease include cirrhosis, ascites, and hepatic encephalopathy.a,14 In pediatric patients, commonly reported manifestations include acute liver failure, abdominal pain, ascites, jaundice, and hepatosplenomegaly.b,13,15

Some patients with Wilson disease can appear asymptomatic and do not present with clinical manifestations of liver disease, but show elevated liver enzymes.16

Wilson’s disease manifestations & symptoms


  1. aBased on a retrospective study of 211 adult patients (mean age 27.9 years) with Wilson disease from Hong Kong.14
  1. bBased on two retrospective studies of children (N=57, median age at diagnosis 11.9 years; N=26, mean age at first medical visit 9.8±3.4 years) with Wilson disease in the UK and Spain, respectively.13,15


Think hepatology

Valentina Medici - Professor, Division of Gastroenterology and Hepatology, University of California Davis, Sacremento CA USA

An overview of hepatic manifestations of Wilson disease.

Mobility may be impaired in Wilson’s disease

Neurologic manifestations of Wilson disease

Dysphagia is a common neurologic symptom of Wilson disease and, if disease progression occurs, it can be a major cause of death due to aspiration pneumonia.17 Neurologic symptoms such as tremor, fisting of the hands, and altered gait can cause significant impairments to mobility and affect everyday life.5,7

Among adults with Wilson disease, dysarthria is the most commonly reported neurologic manifestation and is the initial symptom in ~45% of patients.18 Tremor and postural impairment are also commonly reported in adults.6

In pediatric patients with Wilson disease, dysarthria, dystonia, and cognitive dysfunction are among the most commonly reported neurologic symptoms.a,19 Pediatric patients may also present with writing difficulties.16,20


  1. aBased on a cross-sectional study of 50 children (mean age at onset of symptoms 9.06±2.65 years) with Wilson disease in Pakistan.19


Think neurology

Aurelia Poujois – Hôpital Fondation Adolphe de Rothschild, Paris, France

An overview of neurologic manifestations of Wilson disease.

Psychiatric manifestations of Wilson disease

Psychiatric manifestations of Wilson disease can have a severe impact on patients. It has been reported that 20−60% of patients develop depression over the course of the disease6 and ~4−16% of patients attempt suicide.6

Additional psychiatric problems in patients with Wilson disease may include:

  • Behavioral problems and personality changesa,21
  • Decreased scholastic performance in pediatric patients6
  • Psychosisa,21
  • Anxietya,21
  • Sleep problemsa,21

Psychiatric symptoms & manifestations of Wilson’s disease


  1. aBased on a retrospective study of 195 patients (mean age 19.7±8.7 years) with Wilson disease.21


Think Psychiatry

Paula Zimbrean – Yale School of Medicine, Connecticut, USA

A practical look at the wide range of psychiatric manifestations of Wilson disease.

Excess copper can cause amber eyes (Kayser Fleischer rings) in Wilson’s disease

Ophthalmologic manifestations of Wilson disease

Kayser–Fleischer rings are a result of deposition of excess copper in the cornea and are most often visible as a golden-brown ring in the peripheral cornea.22 They do not affect vision and are a commonly reported ophthalmologic manifestation of Wilson disease often used for diagnosis, yet they are:6,8,15,22

  • Absent in ~10% of patients with neurologic manifestations2,6,8
  • Absent in ~60% of patients with hepatic manifestations2,6,8
  • Absent in ~70−80% of pre-symptomatic patients6
  • Absent in ~80% of pediatric patientsa,15

A diagnosis of Wilson disease should, therefore, not be ruled out based on the absence of Kayser–Fleischer rings.

Sunflower cataracts are also seen in Wilson disease, although these are rarer.23 Eye movement disturbances may be observed, particularly abnormal vertical smooth muscle pursuits.b,24


  1. aBased on a retrospective study of 26 children (mean age at first medical visit 9.8±3.4 years) with Wilson disease in Spain, where the presence of Kayser–Fleischer rings was investigated in 17 patients by slit-lamp examination.15
  1. bBased on a prospective study of 34 patients (mean age at electro-oculography 29 years [range 14–55]) with Wilson disease.24

Think ophthalmology

jesper hjortdal - the danish cornea bank and aarhus university hospital, aarhus, denmark

An overview of ophthalmologic manifestations of Wilson disease.

Impact of age and sex in Wilson disease

Wilson disease usually presents in the first decades of life; however, diagnoses have been reported in an 8-month-old patient and a 72-year-old patient.25,26 A diagnosis of Wilson disease should not be ruled out due to patient age alone.7

Age of onset in Wilson disease varies between patients with hepatic and neurologic manifestations, with the mean age of symptom onset estimated to be:a,4

  • ~16 (±9.6) years for patients with primarily hepatic involvement
  • ~20 (±10.6) years for patients with primarily neurologic involvement


Wilson disease occurs with a similar frequency in men and women.9 However, manifestations of Wilson disease may be influenced by patient sex.9 In a study of 1357 patients, the hepatic form was more common in women, while neurologic manifestations were more common in men.b,27

  • Hepatic presentation
    • Males: 48.3%
    • Females: 56.5%
  • Neurologic presentation
    • Males: 38.1%
    • Females: 29.8%

Psychiatric symptoms & manifestations of Wilson’s disease


  1. aBased on a retrospective study of 163 patients with Wilson disease in Germany, with a mean duration of analysis of 16.7 years (range 1–51).4
  1. bBased on a prospective study of 1357 pediatric and adult (49.8% and 50.2%, respectively) patients with Wilson disease. 328/679 (48.3%) male patients and 383/678 (56.5%) female patients had hepatic presentation. 259/679 (38.1%) male patients and 202/678 (29.8%) female patients had neurologic presentation.27

Think pediatrics

Tamir Miloh – University of Miami Health System, Florida, USA

Wilson disease in pediatric patients, including both symptomatic and pre-symptomatic patients.


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