Which of the following is true of
Wilson’s disease all except -
a) Autosomal recessive
b) Serum ceruloplasmin level < 20 mg/d1
c) Urinary coppor excretion < 100 microgram/c11
d) Zinc acetate is used as maintence therapy
Correct Answer - C
Urinary copper excretion <100 microgram/di [Ref: Harrison 17"'/e p.
2450, 2449]
Symptomatic pts. of Wilson disease invariably have urine copper
levels > 100 pg per day.
Wilson disease is an autosomal recessive disorder caused by
mutation in the ATP 7B gene (a copper transporting ATPase)
Diagnosis - The gold standard for diagnosis is Liver biopsy with
quantitative copper assayQ.
Other diagnostic tests used are ?
- Serum ceruloplasmin levelQ
- KF rings(2
- Urine copper excretiono
- DNA Helpful-ye analysisQ
Serum copper values have no diagnostic value, since they may be
low, normal or elevated depending upon the stage of evolution of
disease.
Table : Useful Diagnostic Tests for Wilson
Disease
Test
Normal
Value Wilson Disease
180-350
Serum
180-350
mg/L
ceruloplasmin
(18-35
mg/d1)
• Low in 85%
• Present in 99%
KF ringsAbsent - If neurologic or
psychiatric
symptoms present.
• Present in 30-50% - in hepatic
presentation and
presymptomatic state
• Urinary copper
excretion is
increased
24-h urine Cu 0.3-0.8
mmol -
1.6intn ol(>100mg)
in symptomatic
patients
• 0.9 to > mmol (60 to
100 mg)
- in presymptomatic
patients
Liver Cu
0.3 — 0.8
mmol/g
• Liver copper is
increased
(20-50 mg)
tissue
• > 3.1 mmol (200
mg)
Haplotype
analysis 0 Matches 2 Matches
Treatment
Zinc is the treatment of choice for Wilson diseaseQ.
It produces a negative copper balance - By blocking intestinal absorption of copper
- By inducing hepatic metallothionein synthesis which sequesters
additional toxic copper.
Table : Recommended Anticopper Treatments for Wilson
Disease
Disease Status First Choice Second Choice
nitial hepatic
manifestations
Zinc
Trientine and zinc
Trientine and zinc
Hepatic
transplantation
Trientine
Penicillainine
and zinc
Hepatic
transplantation
Trientine and
zinc
• Hepatitis or cirrhosis
without
decompensation
• Hepatitis or Cirrhosis
with
decompensation
- Mild
- Moderate
- Severe
Initial
neurologic/psychiatric
Tetraioinolybdate
and zinc
Trientine and
zinc
Maintenance therapy Zinc Trientine
Presymptomatic therapy Zinc Trientine
Pediatric Zinc Trientine
Pregnant Zinc Trientine