Advertisement

Treating Other Symptoms of Wilson Disease: The Liver

  • Michelle Camarata
  • Michael L. Schilsky
Chapter
Part of the Clinical Gastroenterology book series (CG)

Abstract

Wilson disease results in the pathological accumulation of copper, particularly in the liver where it causes cellular damage. Features of liver disease can be extremely variable. Patients may be asymptomatic, particularly when found by family screening or routine laboratory testing while others can have features of jaundice from an inflamed liver or more severe symptoms resulting from end-stage liver disease with cirrhosis. In patients with cirrhosis, complications related to portal hypertension can be life-threatening, and prompt initiation of treatment is essential. Liver cancer, although rare in Wilson disease patients, can occur when cirrhosis and chronic inflammation are present. Screening for liver cancer in those at risk may improve detection at an early stage. Timely initiation of the appropriate therapy for Wilson disease is necessary to prevent disease progression. In those without cirrhosis at the time of diagnosis, the prognosis is excellent. A minority of patients present with acute liver failure. In this situation transplantation is lifesaving.

Keywords

Wilson disease Fibrosis Portal hypertension Cirrhosis Jaundice Varices Ascites Spontaneous bacterial peritonitis TIPS Sepsis Hepatic encephalopathy Hepatocellular carcinoma Cholangiocarcinoma 

Bibliography

  1. 1.
    Aigner E, Theurl I, Haufe H, Seifert M, Hohla F, Scharinger L, Stickel F, Mourlane F, Weiss G, Datz C. Copper availability contributes to iron pertubations in human nonalcoholic fatty liver disease. Gastroenterology. 2008;135:680–8.CrossRefPubMedGoogle Scholar
  2. 2.
    Alessandria C, Ozdogan O, Guevara M, Restuccia T, Jiménez W, Arroyo V, Rodés J, Ginès P. MELD score and clinical type predict prognosis in hepatorenal syndrome: relevance to liver transplantation. Hepatology. 2005;41(6):1282.CrossRefGoogle Scholar
  3. 3.
    Als-Nielsen B, Gluud LL, Gluud C. Non-absorbable disaccharides for hepatic enephalopathy: systemic review of randomised trials. BMJ. 2004;328(7447):1046.CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    Angeli P, Fasolato S, Mazza E, Okolicsanyi L, Maresio G, Velo E, Galioto A, Salinas F, D’Aquino M, Sticca A, Gatta A. Combined versus sequential diuretic treatment of ascites in non-azotaemic patients with cirrhosis: results of an open randomised clinical trial. Gut. 2010;59(1):98–104.CrossRefPubMedGoogle Scholar
  5. 5.
    Bajaj JS, Frederick RT, Bass NM, Ghabril M, Coyne K, Margolis MK, Santoro M, Coakley DF, Mokhtarani M, Jurek M, Scharschmidt BF. Overt hepatic encephalopathy: development of a novel clinician reported outcome tool and electronic caregiver diary. Metab Brain Dis. 2016;31:1081–93.CrossRefPubMedGoogle Scholar
  6. 6.
    Bass NM, Mullen KD, Sanyal A, Poordad F, Neff G, Leevy CB, Sigal S, et al. Rifaximin treatment in hepatic encephalopathy. N Engl J Med. 2010;362(12):1071–81.CrossRefGoogle Scholar
  7. 7.
    Fagiouli S, Colli A, Bruno R, Burra P, Craxì A, Gaeta GB, Grossi P, Mondelli MU, Puoti M, Sagnelli E, Stefani S, Toniutto P. Management of infections in cirrhotic patients: report of a consensus conference. Dig Liver Dis. 2014;46(3):204–12.CrossRefGoogle Scholar
  8. 8.
    Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I, Schilsky M, Cox D, Berr F. Diagnosis and phenotypic classification of Wilson disease. Liver Int. 2003;23:139–42.CrossRefPubMedGoogle Scholar
  9. 9.
    Garcia-Pagan JC, Barrufet M, et al. Management of gastric varices. Clin Gastroenterol Hepatol. 2014;12(6):919–28.CrossRefPubMedGoogle Scholar
  10. 10.
    Garcia-Tsao G, Abraldes JG, Berzigotti A, Bosch J. Portal hypertensive bleeding in cirrhosis: risk stratification, diagnosis and management: 2016 practice guidance by the American Assoication for the study of liver diseases. Hepatology. 2017;65:310–35.CrossRefPubMedGoogle Scholar
  11. 11.
    Gines P, Guevara M, Arroyo V, Rodés J. Hepatorenal syndrome. Lancet. 2003;362:1819.CrossRefGoogle Scholar
  12. 12.
    Gollon JL, Gollan TJ. Wilson disease in 1998: genetic, daignostic and therapeutic aspects. J Hepatol. 1998;28:28–36.CrossRefGoogle Scholar
  13. 13.
    Jalan R, Fernandez J, Wiest R, Schnabl B, Moreau R, Angeli P, Stadlbauer V, Gustot T, Bernardi M, Canton R, Albillos A, Lammert F, Wilmer A, Mookerjee R, Vila J, Garcia-Martinez R, Wendon J, Such J, Cordoba J, Sanyal A, Garcia-Tsao G, Arroyo V, Burroughs A, Ginès P. Bacterial infections in cirrhosis: a position statement based on EASL special conference. J Hepatol. 2013;60(6):1310–24.CrossRefGoogle Scholar
  14. 14.
    Jutabha R, Jensen DM, Martin P, Savides T, Han SH, Gornbein J. Randomized study comparing banding and propranolol to prevent initial variceal hemorrhage in cirrhotics with high risk esophageal varices. Gastroenterology. 2005;128(4):870–81.CrossRefPubMedGoogle Scholar
  15. 15.
    Kim SK, Lee KA, Sauk S, Korenblat K. Comparison of transjugular intrahepatic portosystemic shunt with covered stent and balloon-occluded retrograde transvenous obliteration in managing isolated gastric varices. Korean J Radiol. 2017;18(2):345–54.CrossRefPubMedPubMedCentralGoogle Scholar
  16. 16.
    Lee SJ, Kim SU, Kim MD, Kim YH, Kim GM, Park SI, Won JY, Lee DY, Lee KH. Comparison of treatment outcomes between ballooon-occluded retrograde transvenous obliteration and transjugular intrahepatic portosystemic shunt for gastric variceal bleeding hemostasis. J Gastroenterol Hepatol. 2017;32(8):1487–94.CrossRefPubMedGoogle Scholar
  17. 17.
    Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long term outcome of Wilson’s disease: a cohort study. Gut. 2007;56:115–20.CrossRefPubMedPubMedCentralGoogle Scholar
  18. 18.
    Peng S, Plank LD, McCall JL, Gillanders LK, McIlroy K, Gane EJ. Body composition, muscle function, and energy expenditure in patients with liver cirrhosis: a comprehensive study. Am J Clin Nutr. 2007;85(5):1257–66.CrossRefPubMedGoogle Scholar
  19. 19.
    Pfeiffenberger J, Mogler C, Gotthardt DN, Schulze-Bergkamen H, Litwin T, Reuner U, Hefter H, Huster D, Schemmer P, Członkowska A, Schirmacher P, Stremmel W, Cassiman D, Weiss KH. Hepatobiliary malignancies in Wilson disease. Liver Int. 2015;35(5):1257–66.CrossRefGoogle Scholar
  20. 20.
    Rahimi RS, Singal AG, Cuthbert JA, Rockey DC. Lactulose vs polyethylene glycol 3350 – electrolyte solution for treatment of overt hepatic encephalopathy: the HELP randomized clinical trial. JAMA Intern Med. 2014;174(11):1727–33.CrossRefPubMedPubMedCentralGoogle Scholar
  21. 21.
    Rimola A, García-Tsao G, Navasa M, Piddock LJ, Planas R, Bernard B, Inadomi JM. Diagnosis, treatment and prophylaxis of spontaneous bacterial peritonitis: a consensus document. International Ascites Club. J Hepatol. 2000;32(1):142–53.CrossRefPubMedGoogle Scholar
  22. 22.
    Rossle M, Ochs A, Gülberg V, Siegerstetter V, Holl J, Deibert P, Olschewski M, Reiser M, Gerbes AL. A comparison of paracentesis and transjugular intrahepatic portosystemic shunting in patients with ascites. N Engl J Med. 2000;342(23):1701–7.CrossRefPubMedGoogle Scholar
  23. 23.
    Salerno F, Merli M, Riggio O, Cazzaniga M, Valeriano V, Pozzi M, Nicolini A, Salvatori F. Randomized controlled study of TIPS versus paracentesis plus albumin in cirrhosis with severe ascites. Hepatology. 2004;40(3):629–35.CrossRefGoogle Scholar
  24. 24.
    Santos J, Planas R, Pardo A, Durández R, Cabré E, Morillas RM, Granada ML, Jiménez JA, Quintero E, Gassull MA. Spironolactone alone or in combination with frusemide in the treatment of moderate ascites in nonazotemic cirrhosis. A randomized comparative study of efficacy and safety. J Hepatol. 2003;39(2):187–92.CrossRefPubMedGoogle Scholar
  25. 25.
    Stattermayer AF, Traussnigg S, Dienes HP, Aigner E, Stauber R, Lackner K, Hofer H, Stift J, Wrba F, Stadlmayr A, Datz C, Strasser M, Maieron A, Trauner M, Ferenci P. Hepatic steatosis in Wilson disease – role of copper and PNPLA3 mutations. J Hepatol. 2015;63:156–63.CrossRefPubMedGoogle Scholar
  26. 26.
    Stemmel W, Meyerrose KW, Niederau C, Hefter H, Kreuzpaintner G, Strohmeyer G. Wilson’s disease: clinical presentation, treatment and survival. Ann Intern Med. 1991;115:720–6.CrossRefGoogle Scholar
  27. 27.
    Turnes J, Garcia-Pagan JC, Abraldes JG, Hernandez-Guerra M, Dell’Era A, Bosch J. Pharmacological reduction of portal pressure and long-term risk of first variceal bleeding in patients with cirrhosis. Am J Gastroenterol. 2006;101(3):506–12.CrossRefPubMedGoogle Scholar
  28. 28.
    Unger LW, Berlakovich GA, Trauner M, Reiberger T. Management of portal hypertension before and after liver transplantation. Liver Transpl. 2018;24(1):112–21.CrossRefPubMedGoogle Scholar
  29. 29.
    Vergara V, Muratone A, Bouzari H. Spontaneous rupture of hepatocellular carcinoma: surgical resection and long-term survival. Eur J Surg Oncol. 2000;26:770–2.CrossRefPubMedGoogle Scholar
  30. 30.
    Vilstrup H, Amodio P, Bajaj J, Cordoba J, Ferenci P, Mullen KD, et al. Hepatic encephalopathy in chronic liver disease: 2014 practice guideline by the American Association for the Study of Liver Diseases and the European Association for the Study of the liver. Hepatology. 2014;60(2):715–35.CrossRefPubMedGoogle Scholar
  31. 31.
    Wadei HM, Mai ML, Ahsan N, Gonwa TA. Hepatorenal syndrome: pathophysiology and management. Clin J Am Soc Nephrol. 2006;1(5):1066–79.CrossRefPubMedGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Gastroenterology and HepatologyRoyal Surrey County HospitalGuildford, SurreyUK
  2. 2.Department of Clinical and Experimental MedicineUniversity of SurreyGuildford, SurreyUK
  3. 3.Department of Surgery, Section of Transplant and ImmunologyYale School of MedicineNew HavenUSA
  4. 4.Division of Digestive Diseases and Transplant and Immunology, Departments of Medicine and SurgeryYale UniversityNew HavenUSA

Personalised recommendations