Departments

In reply: Wilson disease (February 2016)

Mohamad A. Hanouneh, MD, Ari Garber, MD, EDD, Anthony S. Tavill, MD, FAASLD, Nizar N. Zein, MD, FAASLD and Ibrahim A. Hanouneh, MD
Cleveland Clinic Journal of Medicine June 2016, 83 (6) 406-407; DOI: https://doi.org/10.3949/ccjm.83c.06002

IN REPLY: We thank Dr. Mirrakhimov and colleagues for bringing important questions to our attention.

In terms of the differential diagnosis of cholestatic liver injury, we agree that pathologic processes such choledocholithiasis, cholangitis, primary biliary cirrhosis, and primary sclerosing cholangitis should be generally considered. However, in the case we described, the patient had no abdominal pain or fever, which makes choledocholithiasis or cholangitis very unlikely. Primary biliary cirrhosis and primary sclerosing cholangitis can cause chronic liver disease but should not be considered in the differential diagnosis of acute liver injury (acute hepatitis), such as in the case we described.

We agree that the hemolytic anemia typically seen in patients with Wilson disease is Coombs-negative, and that Coombs testing and a peripheral smear should be performed. Both were negative in our patient.

We also agree with Dr. Mirrakhimov and colleagues that Kayser-Fleischer rings are not necessarily specific for Wilson disease and can be seen in patients with other forms of cholestatic liver disease such as primary biliary cirrhosis. However, Kayser-Fleischer rings are pathognomonic for acute liver failure from Wilson disease. In other words, when Kayser-Fleischer rings are seen in a patient with acute liver failure, the diagnosis is Wilson disease until proven otherwise.

We discussed on page 112 of our article other treatments such as plasmapheresis as adjunctive therapy to bridge patients with acute liver failure secondary to Wilson disease to transplant. However, liver transplant is still the only definitive and potentially curative treatment.