1. Wilson’s Disease

2. History
33 y/o female physician with a nodular liver on abdominal CT as part of evaluation of hematuria and flank pain
PMH:
GERD
Recurrent cystitis
Breast biopsy
Rhinoplasty
Meds:
Tums
Omeprazole
Oral contraceptive
Ranitidine

3. History One of her brothers carries the diagnosis of “fatty liver”
Social history: unremarkable
Physical examination: unremarkable
Her initial evaluation from another center was only significant for a positive M2 antibody
MRCP from another center showed nodular parenchyma of the liver

4. Laboratory Evaluation
Cr: 0.6
Pr: 6.8
Alb: 4.1
Bili: 0.7
AST: 25
ALT: 13
ALP: 115
INR: 1.2
WBC: 9.1
Hgb: 16.4
Plate: 151
Hep B/C: neg
ANA: neg
SMA: neg
AMA: neg
M2 Ab: 52
A1AT: 197
Iron sat: 32%

5. Abdominal MRI

6. Clinical Course She was scheduled for laparoscopic liver biopsy
Serum copper and ceruloplasmin were ordered as well

9. Pathology Early cirrhosis Moderate lymphoplasmocytic infiltrate
Normal bile ducts
Grade 3, stage 4
Negative copper staining

10. Additional labs Ceruloplasmin: 3 (18-53 mg/dl)
24 h urine Cu: (15-50 mcg/24 h)
Serum Cu: 29 ( mcg/dl)

11. Additional Testing Opthalmalogic exam: Positive for Kayser-Fleischer
Genetic testing:
Homozygous for ATP7B gene.
Liver copper = 404 mcg/g of dry wt [10-33]

12. Treatment
She was initially started on D-penicillamine, but it was stopped 2nd to severe skin rashes
She was started on zinc and has tolerated well to this point (tid to bid)