Diagnosis and management of Wilson's disease: results of a single center experience.
OBJECTIVE
To report on the diagnostic features, management, and clinical outcome after different treatments of Wilson's disease patients followed over a mean period of 15 years.


METHODS
Thirty-five patients with Wilson's disease referred to the University of Padova's Department of Gastroenterology for diagnosis or treatment were observed for a mean 15 years. The diagnosis was based on clinical symptoms, laboratory tests (ceruloplasmin, urinary, and hepatic copper concentrations), and uptake of the radiostable isotope Cu into the plasma protein pool. Hepatic Cu content was measured by regular follow-up biopsies. Neurologic outcome after therapy was assessed using a newly developed scoring system.


RESULTS
Twenty-three (65.7%) patients presented with liver disease; 12 (34.3%) had mixed neurologic and hepatic involvement. All patients had been initially treated with either penicillamine (23) or zinc sulfate (12). The neurologic symptoms became worse or remained stationary in 75% of those treated with penicillamine, whereas zinc treatment improved these symptoms in 90% of treated cases. Both treatments were effective in improving the hepatic symptoms. No differences in hepatic Cu content emerged between follow-up biopsies in either treatment group. Six patients (26%) had to abandon the penicillamine treatment due to side effects. In all, 4 patients underwent liver transplantation, which was successful in 3, with a mean survival after transplantation of 4.6 years; the fourth, who had a severe neurologic impairment, died of central pontine myelinolysis.


CONCLUSIONS
Penicillamine and zinc can effectively treat Wilson's disease, though the side effects of penicillamine may be severe enough to prompt its suspension. Liver transplantation remains the treatment of choice for end-stage liver disease.
Medici
Valentina
V
Department of Surgical and Gastroenterological Sciences, Section of Gastroenterology, University of Padova, Italy.
Trevisan
Carlo Pietro
CP
D'Incà
Renata
R
Barollo
Michela
M
Zancan
Lucia
L
Fagiuoli
Stefano
S
Martines
Diego
D
Irato
Paola
P
Sturniolo
Giacomo Carlo
GC
D000293:Adolescent; D000328:Adult; D000410:Alanine Transaminase / Q000097:blood / Q000187:drug effects; D015415:Biomarkers / Q000097:blood / Q000652:urine; D002570:Ceruloplasmin / Q000187:drug effects / Q000378:metabolism; D002614:Chelating Agents / Q000008:administration & dosage / Q000009:adverse effects; D002648:Child; D002675:Child, Preschool; D003300:Copper / Q000652:urine; D005260:Female; D005500:Follow-Up Studies; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy*; D006801:Humans; D007554:Isotopes / Q000652:urine; D007558:Italy / Q000453:epidemiology; D016031:Liver Transplantation; D008279:Magnetic Resonance Imaging; D008297:Male; D010396:Penicillamine / Q000008:administration & dosage / Q000009:adverse effects; D011183:Postoperative Complications / Q000209:etiology / Q000401:mortality; D012720:Severity of Illness Index; D016019:Survival Analysis; D014057:Tomography, X-Ray Computed; D014131:Trace Elements / Q000627:therapeutic use; D016896:Treatment Outcome; D015032:Zinc / Q000627:therapeutic use
D015415:Biomarkers; D002614:Chelating Agents; D007554:Isotopes; D014131:Trace Elements; D003300:Copper; D002570:Ceruloplasmin; D000410:Alanine Transaminase; D010396:Penicillamine; D015032:Zinc