The goal of treatment of WD in symptomatic patients is to achieve stabilization and improvement of symptoms of the disease, while treatment of an asymptomatic patient aims to prevent the development or progression of such symptoms. Monitoring is the way the doctor determines if these goals are met and should be repeated at regular intervals.

MONITORING INCLUDES:

1. Checking for adherence with medication and diet

Adherence should be monitored at every visit as it is key in the long-term follow-up of patients with WD and is lifelong after diagnosis.

2. Clinical Examination by health care providers

Aim: to confirm the lack, or improvement of symptoms or signs of liver, neurologic, or psychiatric disease; effects of the disease on any other body systems; or indications of side effects of treatment or overtreatment.

3. Copper Status

Copper levels can be measured in the blood, urine, and liver tissue. This is important to evaluate response to therapy, whether medication dose is correct and adherence to therapy.

Lab tests include:

24 Hour Urine test for Copper (and for Zinc if the patient is treated with zinc only)
CBC with platelets
WBC
PT/INR
Liver Panel
Serum Copper
Serum Ceruloplasmin

A liver biopsy may be done to evaluate liver fibrosis, or measure increase in copper in the liver. Scarring of the liver – or cirrhosis – can also be monitored through a FibroScan. The non-invasive test can detect liver disease progression or regression In addition, if Kayser-Fleischer rings in the eyes were previously present, a slit-lamp exam of the eyes may be done to ensure that the rings have diminished or disappeared and are not returning.

The Lab Tracker (see below) may be used to help the patient maintain records of the monitoring that can be reviewed with the health care provider.

4. Liver and Brain Imaging

Ultrasound or FibroScan of the liver is a useful baseline test for any WD patient and can be used to help determine extent of liver disease. The FibroScan is a non-invasive test that can detect liver disease progression or regression

Doppler study to determine blood flow through the liver to exclude blockage of flow in the portal or hepatic vein can usually be done at same time as ultrasound of the liver.

An MRI or CT scan of the brain may be done if there is an indication of neurological worsening.

5. Visit and Testing Frequency

Initial Phase: visit health care provider and undergo laboratory testing at least every 3 months

Maintenance Phase: visit health care provider and undergo laboratory testing every 6 months to 1 year, depending on patient’s status.

Follow up on abnormal results: increase visits to health care provider and the frequency of laboratory tests.

FAILURE:

Treatment failure for patients on therapy with WD can be assessed by progression or lack of improvement in the patient’s symptoms, abnormal laboratory test results, evidence of intolerable side effects of medication, or if there are safety concerns.

OVERTREATMENT OF WD:

Overtreatment for WD can present with symptomatic copper deficiency.

The table below is from p. 153 of Management of Wilson Disease: A Pocket Guide, Michael L. Schilsky, Editor. It outlines treatment goals and results based on 24 hour urine copper excretion in micrograms/day.

Non-compliance can be fatal!!