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Wilson disease

To the Editor: We read the IM Board Review article by Hanouneh et al in the February issue of the Journal with great interest.1 The authors described an interesting case of a young woman presenting with what initially seemed to be jaundice of acute onset, with rapid progression to acute encephalopathy and worsening liver failure. The patient was eventually diagnosed with fulminant Wilson disease and, thankfully, underwent successful liver transplant. We thank the authors for their in-depth review of the common causes of acute liver failure, the general approach to management, and the tailored treatment of Wilson disease in such settings.

However, we believe that several aspects merit further attention. First, on initial presentation and investigation, it would have been important to consider cholestatic hepatobiliary pathologic processes (eg, choledocholithiasis, cholangitis, primary biliary cirrhosis, primary sclerosing cholangitis), given the characteristic liver panel results.

Second, the authors rightly pointed out that hemolytic anemia is common in patients with acute liver failure secondary to Wilson disease. However, it is important to keep in mind that additional testing should include Coombs testing (typically negative in Wilson disease) and examination of the peripheral smear to exclude other etiologies, since such conditions as thrombotic thrombocytopenic purpura may present with multiorgan failure as well.2

Third, the authors report that Kayser-Fleischer rings are pathognomonic for Wilson disease. However, many reports in peer-reviewed medical journals suggest that this may not be the case and the overall clinical picture should be
considered.3

Fourth, while the authors focus their attention on liver transplant, several other treatments deserve mentioning. We agree that liver transplant is considered the only lifesaving treatment. But in certain situations, molecular absorbent recirculation systems and hemodialysis may provide temporary support while awaiting transportation to a liver transplant center or actual liver transplant.4

References
  1. Hanouneh MA, Garber A, Tavill AS, Zein NN, Hanouneh IA. A tale of two sisters with liver disease. Cleve Clin J Med 2016; 83:109–115.
  2. Nguyen TC, Cruz MA, Carcillo JA. Thrombocytopenia-associated multiple organ failure and acute kidney injury. Crit Care Clin 2015; 31:661–674.
  3. Frommer D, Morris J, Sherlock S, Abrams J, Newman S. Kayser-Fleischer-like rings in patients without Wilson’s disease. Gastroenterology 1977; 72:1331–1335.
  4. Hamlyn AN, Gollan JL, Douglas AP, Sherlock S. Fulminant Wilson’s disease with haemolysis and renal failure: copper studies and assessment of dialysis regimens. Br Med J 1977; 2:660–663.
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Aibek E. Mirrakhimov, MD
University of Kentucky College of Medicine, Lexington, KY

Taha Ayach, MD
University of Kentucky College of Medicine, Lexington, KY

Aram Barbaryan, MD
HSHS Saint Mary’s Hospital, Decatur, IL 

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Cleveland Clinic Journal of Medicine - 83(6)
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Aibek E. Mirrakhimov, MD
University of Kentucky College of Medicine, Lexington, KY

Taha Ayach, MD
University of Kentucky College of Medicine, Lexington, KY

Aram Barbaryan, MD
HSHS Saint Mary’s Hospital, Decatur, IL 

Author and Disclosure Information

Aibek E. Mirrakhimov, MD
University of Kentucky College of Medicine, Lexington, KY

Taha Ayach, MD
University of Kentucky College of Medicine, Lexington, KY

Aram Barbaryan, MD
HSHS Saint Mary’s Hospital, Decatur, IL 

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To the Editor: We read the IM Board Review article by Hanouneh et al in the February issue of the Journal with great interest.1 The authors described an interesting case of a young woman presenting with what initially seemed to be jaundice of acute onset, with rapid progression to acute encephalopathy and worsening liver failure. The patient was eventually diagnosed with fulminant Wilson disease and, thankfully, underwent successful liver transplant. We thank the authors for their in-depth review of the common causes of acute liver failure, the general approach to management, and the tailored treatment of Wilson disease in such settings.

However, we believe that several aspects merit further attention. First, on initial presentation and investigation, it would have been important to consider cholestatic hepatobiliary pathologic processes (eg, choledocholithiasis, cholangitis, primary biliary cirrhosis, primary sclerosing cholangitis), given the characteristic liver panel results.

Second, the authors rightly pointed out that hemolytic anemia is common in patients with acute liver failure secondary to Wilson disease. However, it is important to keep in mind that additional testing should include Coombs testing (typically negative in Wilson disease) and examination of the peripheral smear to exclude other etiologies, since such conditions as thrombotic thrombocytopenic purpura may present with multiorgan failure as well.2

Third, the authors report that Kayser-Fleischer rings are pathognomonic for Wilson disease. However, many reports in peer-reviewed medical journals suggest that this may not be the case and the overall clinical picture should be
considered.3

Fourth, while the authors focus their attention on liver transplant, several other treatments deserve mentioning. We agree that liver transplant is considered the only lifesaving treatment. But in certain situations, molecular absorbent recirculation systems and hemodialysis may provide temporary support while awaiting transportation to a liver transplant center or actual liver transplant.4

To the Editor: We read the IM Board Review article by Hanouneh et al in the February issue of the Journal with great interest.1 The authors described an interesting case of a young woman presenting with what initially seemed to be jaundice of acute onset, with rapid progression to acute encephalopathy and worsening liver failure. The patient was eventually diagnosed with fulminant Wilson disease and, thankfully, underwent successful liver transplant. We thank the authors for their in-depth review of the common causes of acute liver failure, the general approach to management, and the tailored treatment of Wilson disease in such settings.

However, we believe that several aspects merit further attention. First, on initial presentation and investigation, it would have been important to consider cholestatic hepatobiliary pathologic processes (eg, choledocholithiasis, cholangitis, primary biliary cirrhosis, primary sclerosing cholangitis), given the characteristic liver panel results.

Second, the authors rightly pointed out that hemolytic anemia is common in patients with acute liver failure secondary to Wilson disease. However, it is important to keep in mind that additional testing should include Coombs testing (typically negative in Wilson disease) and examination of the peripheral smear to exclude other etiologies, since such conditions as thrombotic thrombocytopenic purpura may present with multiorgan failure as well.2

Third, the authors report that Kayser-Fleischer rings are pathognomonic for Wilson disease. However, many reports in peer-reviewed medical journals suggest that this may not be the case and the overall clinical picture should be
considered.3

Fourth, while the authors focus their attention on liver transplant, several other treatments deserve mentioning. We agree that liver transplant is considered the only lifesaving treatment. But in certain situations, molecular absorbent recirculation systems and hemodialysis may provide temporary support while awaiting transportation to a liver transplant center or actual liver transplant.4

References
  1. Hanouneh MA, Garber A, Tavill AS, Zein NN, Hanouneh IA. A tale of two sisters with liver disease. Cleve Clin J Med 2016; 83:109–115.
  2. Nguyen TC, Cruz MA, Carcillo JA. Thrombocytopenia-associated multiple organ failure and acute kidney injury. Crit Care Clin 2015; 31:661–674.
  3. Frommer D, Morris J, Sherlock S, Abrams J, Newman S. Kayser-Fleischer-like rings in patients without Wilson’s disease. Gastroenterology 1977; 72:1331–1335.
  4. Hamlyn AN, Gollan JL, Douglas AP, Sherlock S. Fulminant Wilson’s disease with haemolysis and renal failure: copper studies and assessment of dialysis regimens. Br Med J 1977; 2:660–663.
References
  1. Hanouneh MA, Garber A, Tavill AS, Zein NN, Hanouneh IA. A tale of two sisters with liver disease. Cleve Clin J Med 2016; 83:109–115.
  2. Nguyen TC, Cruz MA, Carcillo JA. Thrombocytopenia-associated multiple organ failure and acute kidney injury. Crit Care Clin 2015; 31:661–674.
  3. Frommer D, Morris J, Sherlock S, Abrams J, Newman S. Kayser-Fleischer-like rings in patients without Wilson’s disease. Gastroenterology 1977; 72:1331–1335.
  4. Hamlyn AN, Gollan JL, Douglas AP, Sherlock S. Fulminant Wilson’s disease with haemolysis and renal failure: copper studies and assessment of dialysis regimens. Br Med J 1977; 2:660–663.
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Cleveland Clinic Journal of Medicine - 83(6)
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