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Wilson disease: Suspect-and-test checklist for clinicians

A one-page worksheet that turns the full Wilson disease diagnosis guide into something you can use at the point of care: what to look for, what to order, which results should not end the workup, and who else to test or refer.

Who it is forClinicians and care teams who may see Wilson disease before it is diagnosed, including primary care, the specialists named in the guide, and referral or genetics coordinators.
When to use itWhen Wilson disease is on the differential, when a patient has several red flags, or when you are preparing a referral or a second opinion.

How to use it, section by section

  1. Red flags present: Tick each finding the patient has. They are grouped by body system so you can scan quickly.
  2. Already labeled as: Tick earlier diagnoses on the chart that the sources say are often given first.
  3. Family to test: Note relatives who may need testing, and record when symptoms began and which specialists have already been seen.
  4. Testing, in order: Tick each test as you order it and write the result on its line. The order follows the published sources.
  5. Results that do not rule it out: A reminder of findings that can look reassuring but do not exclude Wilson disease.
  6. Specialists: Tick the referral, then write who it went to and any notes.
Two ways to fill it inPrint it blank and write on it, or tick boxes and type on this screen first, then print or save as a PDF. Keep it with the chart or send it with the referral.
PrivacyNothing you type is sent or saved. It stays in this browser tab and disappears when you close it. Use patient initials, not full identifiers.

What it is not: Not a diagnostic score, a protocol or coding advice. It summarizes published sources, and clinical judgment and the treating clinician govern. Every point is sourced in the full Wilson disease guide.

One Letter page. Use your browser's print or save as PDF.Full guide with sources
Suspect-and-test checklist
Wilson disease

Autosomal recessive copper disorder. A normal ceruloplasmin does not exclude it, and no single test confirms it.

ICD-10-CME83.01Trial Friend for Clinicians

1Red flags present

Liver

Acute liver failure and blood

Brain and mind

Eyes, other organs, family

2Already labeled as

3Family to test

4Testing, in the order the sources describe

  1. Liver tests, CBC and INRAASLD first-line blood work alongside ceruloplasmin.
    Result
  2. Serum ceruloplasminUnder 5mg/dL is most suggestive. A normal level does not exclude it.
    Result
  3. Basal 24-hour urinary copperOver 100µg in 24 hours if symptomatic; over 40µg may count in children or without symptoms. Check creatinine.
    Result
  4. Slit-lamp exam for KF ringsExperienced observer; optical tomography is an option.
    Result
  5. ATP7B sequencingVariants on both alleles confirm it. If 1 or none is found, add deletion/duplication analysis.
    Result
  6. Leipzig score; relative exchangeable copperFor unclear cases. EASL-ERN 2025 recommends both.
    Result
  7. Liver biopsy with quantitative copperOver 250µg/g in most; under 50µg/g almost always excludes it.
    Result
  8. Brain MRI if neurologic signsBaseline and to exclude other causes.
    Result
  9. Liver failure: ALP to bilirubin and AST to ALTRatio under 4 plus over 2.2 identified Wilson disease in a 140-patient cohort. Urgent transplant evaluation.
    Result

5Results the sources say do not rule it out

  • Normal ceruloplasmin. Seen in up to 40% of hepatic presentations.
  • Urinary copper under 100µg in 24 hours. That cutoff may miss 16-23%.
  • No Kayser-Fleischer rings. Often absent in hepatic cases, in most children with liver disease and in 50% of liver failure cases.
  • A negative copper stain, or liver copper of 100-250µg/g. Neither excludes it.

6Specialists the sources name

Diagnosis code: E83.01 Wilson's diseaseCodes patients often carry before diagnosis are listed in the online guide.
Full guide and sourcesEvery point here is sourced in the online guide, which also has a patient note to print.
Trial Friend, trialfriend.com/for-clinicians. Key sources: AASLD 2022 guidance; EASL-ERN 2025 guideline; GeneReviews (2023); Leipzig score paper (2003); Korman 2008 acute liver failure study; all 7 with links in the online guide. Checked November 10, 2026. A reference checklist for licensed clinicians that summarizes published sources. It is not a diagnostic tool, a score or a protocol, and it does not replace clinical judgment, local practice or the prescribing information. Not coding advice. Trial Friend never receives anything written or typed on this sheet.