eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases

Wilson Disease: Follow-up

Author: Beth A Carter, MD, Assistant Professor of Pediatrics, Department of Pediatric Gastroenterology, Hepatology and Nutrition, Medical Director, Pediatric Intestinal Rehabilitation Program, Texas Children's Hospital and Baylor College of Medicine
Contributor Information and Disclosures

Updated: Nov 9, 2009

Follow-up

Further Outpatient Care

  • Once the diagnosis of Wilson disease is established, testing of urinary copper excretion is appropriate during treatment.
  • Other laboratory tests used to monitor patients include liver function tests and measurement of serum ceruloplasmin and serum copper levels.
  • Expect liver function test results to return to reference range within the first year of therapy.
  • Periodic ophthalmologic examinations are recommended to document the disappearance of Kayser-Fleischer rings with therapy.

Deterrence/Prevention

  • Consider referring families for genetic counseling.
  • An index for Wilson disease that is based on serum bilirubin levels, international normalized ratio, aspartate aminotransferase levels, and WBC count has been described. It may be beneficial in predicting mortality without liver transplantation in patients with Wilson disease.

Complications

  • Complications include progressively worsening CNS changes, dysarthria, drooling, dysphagia, and personality changes.
  • Hepatic failure is possible.
  • Renal and hematologic complications are possible.

Prognosis

  • Wilson disease is uniformly fatal if left untreated.
  • The prognosis depends on the extent of disease at the time of treatment onset. If treatment is timely, normal life expectancy can be achieved.
  • The prognosis is best in asymptomatic siblings in whom Wilson disease has been identified using biochemical or genetic analyses and who have received treatment.
  • A poor prognosis (ie, rapid fulminant hepatic failure) has been reported in patients who discontinue chelation therapy.
  • A relatively favorable outcome has been reported after liver transplant, with reported decrease in neurologic symptoms. Continued chelation therapy was not necessarily required posttransplantation.

Patient Education

  • The Wilson's Disease Association is a source of information (1-800-399-0266).
  • Offer genetic counseling to patients who have questions about future offspring or the possibility that asymptomatic relatives may have Wilson disease (see GeneTests for available testing laboratories).
  • For excellent patient education resources, visit eMedicine's Liver, Gallbladder, and Pancreas Center and Hepatitis Center. Also, see eMedicine's patient education article, Cirrhosis.
  • In June 2004, the EuroWilson project was started with the goal of creating a database of information on newly diagnosed cases of Wilson disease and to design randomized trials for this condition.

Miscellaneous

Medicolegal Pitfalls

  • Consider and exclude Wilson disease in any child who presents with evidence of liver disease.
  • The hepatic presentation of Wilson disease is more common in children. The neurologic presentation is more common in adults.
  • The classic Wilson disease triad of hepatic disease, neurologic manifestations, and Kayser-Fleischer rings is rare in everyday practice.
 


More on Wilson Disease

Overview: Wilson Disease
Differential Diagnoses & Workup: Wilson Disease
Treatment & Medication: Wilson Disease
Follow-up: Wilson Disease
Multimedia: Wilson Disease
References
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References

  1. Wilson SA. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain. 1912;34:295.

  2. Stuehler B, Reichert J, Stremmel W, Schaefer M. Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients. J Mol Med. Sep 2004;82(9):629-34. [Medline].

  3. Stapelbroek JM, Bollen CW, van Amstel JK, et al. The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis. J Hepatol. Nov 2004;41(5):758-63. [Medline].

  4. Yoshitoshi EY, Takada Y, Oike F, Sakamoto S, Ogawa K, Kanazawa H. Long-term outcomes for 32 cases of Wilson's disease after living-donor liver transplantation. Transplantation. Jan 27 2009;87(2):261-7. [Medline].

  5. [Guideline] Murray KF, Carithers RL Jr. AASLD practice guidelines: Evaluation of the patient for liver transplantation. Hepatology. Jun 2005;41(6):1407-32. [Medline]. [Full Text].

  6. Leiros da Costa MD, Spitz M, Bacheschi LA, Leite CC, Lucato LT, Barbosa ER. Wilson's disease: two treatment modalities. Correlations to pretreatment and posttreatment brain MRI. Neuroradiology. May 29 2009;[Medline].

  7. Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML. Wilson's disease. Lancet. Feb 3 2007;369(9559):397-408. [Medline].

  8. Altschuler SM, Liacouras CA. Clinical Pediatric Gastroenterology. New York, NY: Churchill Livingstone; 1998:451-6.

  9. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet. Dec 1993;5(4):327-37. [Medline].

  10. Das SK, Ray K. Wilson's disease: an update. Nat Clin Pract Neurol. Sep 2006;2(9):482-93. [Medline].

  11. Dhawan A, Taylor RM, Cheeseman P, De Silva P, Katsiyiannakis L, Mieli-Vergani G. Wilson's disease in children: 37-year experience and revised King's score for liver transplantation. Liver Transpl. Apr 2005;11(4):441-8. [Medline].

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  13. EuroWilson Project. EuroWilson. Living with Wilson's. Available at http://www.eurowilson.org.

  14. Gitlin JD. Aceruloplasminemia. Pediatr Res. Sep 1998;44(3):271-6. [Medline].

  15. Katzung BG. Basic and Clinical Pharmacology. 8th ed. Appleton & Lange; 2000.

  16. Manolaki N, Nikolopoulou G, Daikos GL, Panagiotakaki E, Tzetis M, Roma E. Wilson disease in children: analysis of 57 cases. J Pediatr Gastroenterol Nutr. Jan 2009;48(1):72-7. [Medline].

  17. McCullough AJ, Fleming CR, Thistle JL, et al. Diagnosis of Wilson's disease presenting as fulminant hepatic failure. Gastroenterology. Jan 1983;84(1):161-7. [Medline].

  18. McMillan JA, DeAngelis CD, Feigin RD, eds. Oski's Pediatrics: Principles and Practice. Baltimore, Md: Lippincott Williams & Wilkins; 1999:1721-2.

  19. Menkes JH. Menkes disease and Wilson disease: two sides of the same copper coin. Part II: Wilson disease. Eur J Paediatr Neurol. 1999;3(6):245-53. [Medline].

  20. National Digestive Diseases Information Clearinghouse (NDDIC). Available at http://digestive.niddk.nih.gov/ddiseases/pubs/wilson/.

  21. Oder W, Prayer L, Grimm G, et al. Wilson's disease: evidence of subgroups derived from clinical findings and brain lesions. Neurology. Jan 1993;43(1):120-4. [Medline].

  22. Roberts EA, Cox DW. Wilson disease. Baillieres Clin Gastroenterol. Jun 1998;12(2):237-56. [Medline].

  23. Schilsky ML, Scheinberg IH, Sternlieb I. Prognosis of Wilsonian chronic active hepatitis. Gastroenterology. Mar 1991;100(3):762-7. [Medline].

  24. Scott J, Gollan JL, Samourian S, Sherlock S. Wilson's disease, presenting as chronic active hepatitis. Gastroenterology. Apr 1978;74(4):645-51. [Medline].

  25. Tanzi RE, Petrukhin K, Chernov I, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet. Dec 1993;5(4):344-50. [Medline].

  26. Wilson's Disease Association. Available at http://www.wilsonsdisease.org/.

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Further Reading

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Keywords

Wilson disease, hepatolenticular degeneration, WD, Wilson's disease, ceruloplasmin, copper accumulation, copper metabolism dysfunction, CNS disorder, cirrhosis, liver disease, hepatic disease, Kayser-Fleischer rings, neurologic disorder, copper deposition

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Contributor Information and Disclosures

Author

Beth A Carter, MD, Assistant Professor of Pediatrics, Department of Pediatric Gastroenterology, Hepatology and Nutrition, Medical Director, Pediatric Intestinal Rehabilitation Program, Texas Children's Hospital and Baylor College of Medicine
Beth A Carter, MD is a member of the following medical societies: American Gastroenterological Association, American Liver Foundation, and North American Society for Pediatric Gastroenterology, Hepatology and Nutrition
Disclosure: Nothing to disclose.

Medical Editor

Erawati V Bawle, MD, FAAP, FACMG, Division of Genetic and Metabolic Disorders, Children's Hospital of Michigan; Professor (Clinician-Educator), Department of Pediatrics, Wayne State University School of Medicine
Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Robert Anthony Saul, MD, Clinical Professor, Department of Pediatrics, University of South Carolina; Senior Clinical Geneticist, Greenwood Genetic Center
Robert Anthony Saul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, and American College of Physician Executives
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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