Wilson’s Disease

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

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

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%

Abdominal MRI

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

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

Additional labs Ceruloplasmin: 3 (18-53 mg/dl) 24 h urine Cu: 173 (15-50 mcg/24 h) Serum Cu: 29 (70-155 mcg/dl)

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

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)