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Wilson Disease

para>Continue treatment during pregnancy due to the risk of fulminant hepatic failure (3). Reduce chelating agents to minimum dose, particularly in last trimester, to promote adequate wound healing in mother after birth. Adjustment of zinc dose is not required (2).
  • Breast feeding is not recommended for those on chelator therapy (5).

  • ‚  

    INPATIENT CONSIDERATIONS


    Admission Criteria/Initial Stabilization
    • Acute liver failure and decompensated liver disease should be referred to liver transplant center.
    • Plasmapheresis and hemodialysis may prevent tubular damage to kidneys (2).
    • Albumin dialysis shown to delay need for transplantation, as can normalize copper levels. Case study showed improved encephalopathy and delayed organ failure (6).

    ONGOING CARE


    FOLLOW-UP RECOMMENDATIONS


    Minimum 2 times per year for stable patients (2) ‚  
    Patient Monitoring
    • 24-hour urinary copper excretion (annually, or more frequent if questioning compliance): 200 to 500 g/24 hr with chelating agents. <75 g/24 hr with zinc. Low urinary levels with high non-ceruloplasmin bound copper indicates non-compliance. Low urinary levels with low non-ceruloplasmin bound copper indicates over treatment.
    • Other labs: CBC, LFT, INR, serum copper, ceruloplasmin (2)

    DIET


    Avoid copper-rich foods: shellfish, organ meat, nuts, chocolate, and so forth. (2) ‚  

    PATIENT EDUCATION


    • Life-long treatment and compliance are required to avoid complications.
    • Watch for neurological and psychiatric signs of disease.

    PROGNOSIS


    • Universally fatal without treatment
    • Liver disease stabilizes after 1 to 2 years of treatment.
    • Wilson index (a prognostic indicator): Serum bilirubin, aspartate aminotransferase (AST), INR, white blood cell (WBC), and albumin used to predict prognosis. Points are given depending on the lab value within each factor (4 points possible per factor). Score >11 requires liver transplant for survival (5).

    COMPLICATIONS


    • Decompensated liver disease
    • Neurological disease
    • Psychiatric disease: depression (2)

    REFERENCES


    11 Huster ‚  D. Wilson disease. Best Pract Res Clin Gastroenterol.  2010;24(5):531 " “539.22 Roberts ‚  EA, Schilsky ‚  ML, American Association for Study of Liver Diseases (AASLD). Diagnosis and treatment of Wilson disease: an update. Hepatology.  2008;47(6):2089 " “2111.33 Weiss ‚  KH. Wilson disease. In: Pagon ‚  RA, Adam ‚  MP, Ardinger ‚  HH, et al., Eds. GeneReviews. Seattle, WA: University of Washington, Seattle; 1993 " “2015.44 Ferenci ‚  P, Caca ‚  K, Loudianos ‚  G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int.  2003;23(3):139 " “142.55 European Association for Study of Liver. EASL clinical practice guidelines: Wilson 's disease. J Hepatol.  2012;56(3):671 " “685.66 Kreymann ‚  B, Seige ‚  M, Schweigart ‚  U, et al. Albumin dialysis: effective removal of copper in a patient with fulminant Wilson disease and successful bridging to liver transplantation: a new possibility for the elimination of protein-bound toxins. J Hepatol.  1999;31(6):1080 " “1085.

    ADDITIONAL READING


    • Ala ‚  A, Walker ‚  AP, Ashkan ‚  K, et al. Wilson 's disease. Lancet.  2007;369(9559):397 " “408.
    • Dhawan ‚  A, Taylor ‚  RM, Cheeseman ‚  P, et al. Wilson 's disease in children: 37-year Experience and Revised King 's Score for Liver Transplantation. Liver Transpl.  2005;11(4):441 " “448.

    CODES


    ICD10


    E83.01 Wilson 's disease ‚  

    ICD9


    275.1 Disorders of copper metabolism ‚  

    SNOMED


    Wilson 's disease (disorder) ‚  

    CLINICAL PEARLS


    • Suspect Wilson disease in a patient with liver disease of unknown origin, co-existing neuropsychological symptoms, or with atypical autoimmune hepatitis/non-alcoholic steatohepatitis that does not respond readily to therapy.
    • Confirm Wilson disease with ceruloplasmin <20 mg/dL, presence of KF-Rings, and 24-hour urinary copper >40 Ž Όg/day (2).
    • Chelating agents (D-penicillamine and Trientine) are first line treatment.
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