Updated: 5/1/2020

Wilson Disease

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Snapshot
  • A 33-year-old female is referred to a neurologist by her primary care physician for unsteady gate, forgetfullness, and recent episodes of Terret-like spells where she will fling one arm out and above her head seemingly unprovoked. One physical exam, the neurologist notices that her irises appear multicolored with concentric rings around the perpiphery. He is concerned for a metabolic disease and orders several laboratory and radiologic studies. In the interim he has advised her to avoid eating chocolate and shellfish
Introduction
  • Free copper accumulation in many tissues (liver, brain, cornea, joints)
    • also known as hepatolenticular degeneration
    • mutation in ATP7B results in
      • inadequate copper excretion by liver into bile  
      • failure of copper to enter circulation bound to ceruloplasmin
        • ceruloplasmin is the transport protein for copper (like transferrin for Fe)
        • copper bound to ceruloplasmin normally represents the largest fraction of copper in the body
    • free copper generates free radicals that damage tissues
    • see Metabolism of copper topic
    • AR inheritance
Presentation
  • Symptoms
    • Parkinson-like symptoms
      • secondary to copper desposits in putamen
    • hemiballismus
      • secondary to copper desposits in subthalamic nucleus
    • dementia
      • secondary to copper desposits in cerebral cortex
  • Physical exam
    • cirrhosis
    • corneal deposits on slit lamp examination 
      • Kayser-Fleischer rings  
        • RARELY seen in other conditions that may result in increased copper such as primary billiary cirrhosis
Evaluation
  • Labs 
    • ↓ total serum copper
      • due to ↓ ceruloplasmin
    • ↑ serum non-ceruloplasmin bound copper
    • ↑ urine/serum free copper
    • hemolytic anemia
  • Liver Biopsy
    • If performed will show increased hepatic copper
Treatment
  • Medical
    • ammonium tetrathiomolybdate
      • facilitates urinary excretion of copper
    • penicillamine  
      • copper chelating agent
    • trientine
      • copper chelating agent
    • zinc
      • competes with copper for absorbtion in the gut via the same transporter
  • Surgical
    • Consider liver transplantation as clinical condition deteriorates 
Prognosis, Prevention, and Complications
  • At risk for liver disease
    • hepatitis
    • cirrhosis
    • carcinoma (hepatocellular)
  • Also at risk for Fanconi's disease of the proximal tubules
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Questions (8)
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(M1.GI.13.138) A 31-year-old male with cirrhosis, dementia, and Parkinson-like symptoms is diagnosed with a hereditary metabolic disease resulting from the accumulation of a certain metal in various tissues. Impairment of which of the following elimination pathways is most likely responsible? Tested Concept

QID: 101195
1

Secretion into bile

66%

(59/90)

2

Loop of Henle secretion into lumen of kidney

6%

(5/90)

3

Glomerular filtration

9%

(8/90)

4

Bleeding

3%

(3/90)

5

Duodenal secretion

11%

(10/90)

M 1 D

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(M1.GI.13.114) A 14-year-old Caucasian male patient found to have low serum copper, high urine copper, and low serum ceruloplasmin is placed on penicillamine for management of his genetic disorder. Which of the following is LEAST consistent with this patient's clinical picture? Tested Concept

QID: 101171
1

Kinky, easily breakable hair

51%

(37/72)

2

Cirrhosis

7%

(5/72)

3

Hemiballismus

21%

(15/72)

4

Corneal deposits

6%

(4/72)

5

Parkinson-like symptoms

7%

(5/72)

M 1 E

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(M1.GI.13.168) A 15-year-old Caucasian female presents with Parkinson-like symptoms. Serum analysis shows increased levels of free copper and elevated liver enzymes. What test would prove most helpful in diagnosing the patient's underlying disease? Tested Concept

QID: 101225
1

Serum detection of anti-myelin antibodies

8%

(7/89)

2

Slit lamp examination

65%

(58/89)

3

Vitamin B12 test

16%

(14/89)

4

CT scan

3%

(3/89)

5

Reflex test

3%

(3/89)

M 2 E

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Evidence (5)
Topic COMMENTS (12)
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