Wilson’s disease masquerading as nonalcoholic steatohepatitis

Sabina Mahmood, Nobu Inada, Akiyoshi Izumi, Miwa Kawanaka, Haruhiko Kobashi, Gotaro Yamada
Department of Internal Medicine & Clinical Research, Center for Liver Disease
Kawasaki Medical School, Kawasaki Hospital, Okayama, Japan.

Background: Wilson’s disease is one of the most common hereditary causes of unclear hepatopathy. Patient & Method: A 34-year old male patient with a history of hyperlipidemia was admitted with symptoms of abdominal pain and slight hematuria. Abnormal liver function tests, ultrasound reports and liver biopsy were suggestive of nonalcoholic steatohepatitis (NASH). The patient received preliminary treatment for NASH. However, on subsequent follow-up, NASH remained unresolved and liver histology showed fibrosis progression from fibrosis stage 1 to stage 3. Results: Biochemical tests revealed that the levels of serum ceruloplasmin were decreased (7mg/dl) while the urinary excretion of copper was found to be increased (174.2 μg/day). Wilson’s disease was confirmed by diagnostic mutation analysis involving Direct Sequencing. Heterogeneity in the patients ATP7B gene confirmed Wilson’s disease. Administration of D-penicilamine resulted in a decrease in fat deposition in the liver and no further progression in fibrosis after 10 months. Conclusion: Adult patient presenting NASH as first symptoms need to be examined for Wilson’s disease and other metabolic conditions affecting the liver, prior to initiation of treatment. (Mahmood S, Inada N, Izumi A, Kawanaka M, Kobashi H, Yamada G. Wilson’s disease masquerading as nonalcoholic steatohepatitis. North Am J Med Sci 2009; 1: 74-77)

Key words: Wilson’s disease, serum ceruloplasmin, hyperlipidemia, liver, non alcoholic fatty liver disease (NAFLD), nonalcoholic steatohepatitis (NASH).

Correspondsence to: Dr. Sabina Mahmood, MD., PhD., Lecturer. Department of Internal Medicine & Clinical Research, Center for Liver Disease, Kawasaki Medical School, Kawasaki Hospital, Okayama, Japan. Tel.: +81-86-225-2111 ext: 3990, Fax: +81-86-232-6806. Email: sabina@m4.dion.ne.jp