eMedicine Specialties > Gastroenterology > Systemic Disease

Wilson Disease: Follow-up

Author: Rahil Shah, MD, Consulting Staff, Department of Gastroenterology, University Medical Center
Coauthor(s): Michael H Piper, MD, FACG, FACP, Clinical Assistant Professor, Department of Internal Medicine, Division of Gastroenterology, Wayne State University School of Medicine; Consulting Staff, Digestive Health Associates PLC
Contributor Information and Disclosures

Updated: Aug 25, 2009

Follow-up

Further Outpatient Care

• Perform a physical examination, 24-hour urinary copper excretion assay, CBC count, urinalysis, serum free copper measurement, and renal and liver function tests on a weekly basis for the first 4-6 weeks following initiation of chelation therapy. Monitor efficacy as follows:
  • The best way to monitor efficacy is to measure serum nonceruloplasmin-bound copper. This is measured by the following formula: Total serum copper (mcg/dL) - 3[ceruloplasmin (mg/dL)]. The reference range is <15 mcg/dL.
  • An adjunctive way to monitor efficacy is to measure urinary copper excretion. Urinary chelator levels usually measure 200-500 mcg/day. Urinary zinc levels usually measure <75 mcg/day.
• Bimonthly evaluations are recommended through the first year, followed by yearly examinations thereafter.
• In patients with Kayser-Fleischer rings, a yearly slit-lamp examination should document fading or disappearance if patients are being adequately "decoppered."
• Lifelong, uninterrupted chelation therapy is necessary in all patients with Wilson disease.
• Frequent follow-up with patients is necessary, secondary to patient decompensation due to noncompliance. This is one of the major causes of fulminant liver failure.
• Patients must avoid most alcohol consumption and potential hepatotoxic drug therapy.

Inpatient & Outpatient Medications

• Zinc and penicillamine are lifelong medications for patients with Wilson disease. Dosages vary with severity of disease.

Complications

• The major complications in patients with untreated Wilson disease are those associated with liver failure and a chronic, relentless course to cirrhosis, which is characterized by a progressive lassitude, fatigue, anorexia, jaundice, spider angiomas, splenomegaly, and ascites. Bleeding from varices, hepatic encephalopathy, hepatorenal syndrome, and coagulation abnormalities occur as liver failure ensues.

Prognosis

• Prognostic Index in Fulminant Wilsonian Hepatitis
  
  

  Open table in new window

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  Table

  Score	0	1	2	3	4
  Serum bilirubin (reference range, 3-20 mmol/L)	<100	100-150	151-200	201-300	>300
  Serum aspartate transaminase (reference range, 7-40 IU/L)	<100	100-150	151-200	201-300	>300
  Prothrombin time prolongation (seconds)	<4	4-8	9-12	13-20	>30

  Score	0	1	2	3	4
  Serum bilirubin (reference range, 3-20 mmol/L)	<100	100-150	151-200	201-300	>300
  Serum aspartate transaminase (reference range, 7-40 IU/L)	<100	100-150	151-200	201-300	>300
  Prothrombin time prolongation (seconds)	<4	4-8	9-12	13-20	>30

• Patients with a prognostic index (ie, score) of 7 or greater should be considered for liver transplantation. All patients who exceeded this score died within 2 months of diagnosis despite the institution of appropriate medical therapy.
• Prognosis after liver transplantation is relatively good. In a study involving 55 patients with Wilson disease who underwent hepatic transplantation, the 1-year survival rate was 79% and the overall survival rate was 72% at 3 months to 20 years.

Patient Education

• For excellent patient education resources, visit eMedicine's Liver, Gallbladder, and Pancreas Center and Hepatitis Center. Also, see eMedicine's patient education article Cirrhosis.

Miscellaneous

Medicolegal Pitfalls

• Failure to consider Wilson disease in the differential diagnosis of any unexplained chronic liver disease or an abnormal liver enzyme profile, especially in individuals younger than 40 years, is a potential medicolegal pitfall. The typical age for hepatic presentation is 10-13 years, whereas that for neuropsychiatric presentation is 20 years.
• In female patients with Wilson disease, it should be explained that very few women can become pregnant once cirrhosis develops.
• First-degree relatives of any patient newly diagnosed with Wilson disease must be screened for the condition. Assessment should include history and physical examination, serum aminotransferase determinations, biochemical tests of hepatic synthetic function, CBC count, and ceruloplasmin testing. Kayser-Fleischer rings should be sought by slit-lamp examination. The basal 24-hour urinary copper excretion rate should be measured. Genotype or haplotype studies based on findings in the proband should be performed.

Special Concerns

• Pregnancy
  • Excessive intrauterine copper concentrations may be responsible for the high rate of spontaneous abortions in patients with Wilson disease. D-penicillamine (0.75-1.5 g/d) appears to pose no major risk to the fetus and should be continued throughout the pregnancy.
  • While pregnancy per se does not appear to have a deleterious effect on the course of treated patients, the risk of ascites or bleeding from gastroesophageal varices in pregnancy is increased for any individual with cirrhosis, regardless of the underlying etiology.
• Pediatric
  • Pediatricians should consider Wilson disease in any child with hepatic abnormalities.
  • The initial tests should be performed, and further workup by a pediatric gastroenterologist may be necessary if suspicion remains high.
• Geriatric
  • Almost all patients have significant hepatic and neuropsychiatric symptoms before reaching the geriatric age group.
  • Patients with Wilson disease who are untreated will most likely present with fulminant hepatic failure or with signs and symptoms of cirrhosis in the geriatric population. Consideration for liver transplantation is less likely with advancing age.

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