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Wilson Disease

Faruq Pradhan, MD, Lisa N. Jarnagin, MBBCh, BAO and Fredric D. Gordon, MD Reviewed 06/2019
 


BASICS

DESCRIPTION

  • Autosomal recessive condition affecting copper excretion; originally known as progressive lenticular degeneration

  • Leads to progressive liver damage and cirrhosis, commonly associated ...

DIAGNOSIS

HISTORY

  • Typically presents in children between ages 9 and 13 years with signs of liver disease

  • Older patients between ages 15 and 21 years are more likely to present with neurologic manifestat...

TREATMENT

GENERAL MEASURES

  • Avoid copper-rich foods (2)[C].

  • Check home water for copper content (2).

MEDICATION

First Line

  • D-penicillamine: 250 to 500 mg/day initially. Increase by 250 mg every 4 to 7 days ...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Minimum 2 times per year for stable patients (2

Patient Monitoring

  • 24-hour urinary copper excretion (annually or more frequent if questioning compliance): 200 to ...

REFERENCES

1
Huster D. Wilson disease. Best Pract Res Clin Gastroenterol.  2010;24(5):531–539. [View Abstract on OvidMedline]
2
Roberts EA, Schilsky ML; for American Association for Study of Liver D...

ADDITIONAL READING

Chenbhanich J, Thongprayoon C, Atsawarungruangkit A. Osteoporosis and bone mineral density in patients with Wilson’s disease: a systematic review and meta-analysis. Osteoporos Int. ...

CODES

ICD10

E83.01 Wilson’s Disease 

ICD9

275.1 Disorders of copper metabolism 

SNOMED

88518009 Wilson’s disease (disorder) 

CLINICAL PEARLS

  • Suspect Wilson disease in a patient with liver disease of unknown origin, coexisting neuropsychologic symptoms, or with atypical autoimmune hepatitis/nonalcoholic steatohepatitis that ...

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