Issue One 2015
2015, Vol. 2, issue 1, (March)
Case Reports
Autoimmune Mimicry Face of Wilson’s Disease
Abstract:
Wilson’s disease is an autosomal recessive disorder. It results in the accumulation of copper in the liver, brain, and other organs. An impairment in the biliary excretion process leads to copper accumulation in the liver, which progressively damages the liver, leading to cirrhosis. Wilson’s disease is characterised by low serum ceruloplasmin levels, low copper levels, Kayser-Fleischer rings, and hypercupriuria. Case Description: we describe the case of a young female who did not have classical features for Wilson’s disease. She presented with hepato-splenomegaly, elevated aminotransferase levels, increased serum immunoglobulin IgG, detectable antinuclear antibodies and anti-smooth muscle antibodies. On this basis the diagnosis autoimmune hepatitis was set. In spite of the conducted immunosuppressive therapy with Imuran – 100 mg/d and Dehydrocortison 20mg/d for about 4 months, an improvement wasn`t observed. The disease deteriorated with a progression to liver cirrhosis. So another explanation for the disease had to be found. Conclusions: The clinical presentation of Wilson disease is extremely variable and may mimic autoimmune hepatitis. Untreated Wilson’s disease is usually fatal, with most patients dying from liver disease, and a minority from progressive neurologic complications. Chelation treatment and liver transplantation prolong survival to normal.
Authors:
Tanya Petcova; University Hospital “St. Ivan Rilski” Sofia, Clinic of Gastroenterology;Krasimir Antonov; University Hospital “St. Ivan Rilski” Sofia, Clinic of Gastroenterology;
Rosen Nikolov; University Hospital “St. Ivan Rilski” Sofia, Clinic of Gastroenterology;
Zoia Spasova; University Hospital “St. Ivan Rilski” Sofia, Clinic of Gastroenterology;
Lyudmila Mateva; University Hospital “St. Ivan Rilski” Sofia, Clinic of Gastroenterology;