Wilson's Disease question for you GI docs

[whopper]

Hello fellow docs, I'm a psychiatrist, usually in the psyche section. I highly doubt I got a patient with Wilson's but I'm at a point where I've got this patient on several meds and can only improve him to a level where I'm not, he's not nor his family is satisfied.

His family would like me to check for Wilson's disease, which I'm sure most of you know can cause psychotic symptoms. I don't mind doing that except I'm facing the managed care hurdle because he's not really suffering any major symptoms that are indicative of it. I don't even think he has it, but it'd give his family peace of mind to see a negative test. Only symptom he has is some difficulty talking which I'm attributing to clozaril administration.

So question-in Wilson's, wouldn't you see abnormal liver tests before the neuropsychiatric symptoms set in? His LFTs are normal. If this is the case, I can assure his family that the ceruplasmin test is unnecessary.

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[HomerSD]

The negative predictive value of normal liver function tests may not be sufficient to completely rule out Wilson's disease. While the majority of patients will have elevated transaminases, some may not. Further work-up should be based on your pre-test suspicion.

Of note, a normal ceruloplasmin does not necessarily rule out Wilson's. Slit lamp examination for K-F rings and 24 hr urine copper measurements are done as well. Liver biopsy is sometimes considered when no K-F rings are seen and there is a strong suspicion of Wilson's.

 

[DrWBD]

Normal transaminases are a strong argument against a chronic liver disease such as Wilson's, but as mentioned, not 100%.

Simply explain to the family that your suspicion for Wilson's is very low, and that if they want to pursue this diagnosis, their managed care plan might not pay for it, and payment for the testing would have to be made out-of-pocket. Additionally, you should advise them (and document) that confirmatory testing can also involve additional cost as well as additional risk of complications (liver biopsy).

Keep in mind that withholding the testing may have the unintended effect of the family deciding not to trust you, and may prompt them to find another physician who will do the testing.