Diagnosis guide for clinicians
Wilson disease: when to suspect it and what to test
Wilson disease is an autosomal recessive disorder in which impaired ATP7B function cuts biliary copper excretion, so copper accumulates in the liver, brain and cornea.Source AASLD 2022 guidance
AASLD guidance says it can present as liver disease, a neurologic disorder, a psychiatric illness or a mix, with frequently nonspecific symptoms at any age.
Source AASLD 2022 guidanceThe Leipzig working party wrote that no single test can confirm or exclude Wilson disease with 100% certainty.
Source Leipzig score paper- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Adolescent, Adult, Elderly
- Prevalence
- 1 to 9 per 100,000 prevalence at birth, Worldwide
- 1 to 9 per 100,000 point prevalence, Worldwide
- 1 to 9 per 100,000 point prevalence, Europe
- Also called
- Hepatolenticular degeneration
Live from Orphanet (INSERM) via Orphadata, licensed CC BY 4.0, data version 2026-06-23.
Patterns that should prompt a test for Wilson disease
Each sign below is common on its own, which is why Wilson disease is missed. Published studies describe these combinations as the picture to act on. Rows are ordered from the highest published figure to the lowest, within each kind of measure.
Where testing finds it
Share of each screened or biopsied group found to have Wilson disease, from the cited studies. A bar spans the lowest to the highest published figure.
- 1
Liver disease under hospital evaluation+Serum ceruloplasmin under 20mg/dL
17 patients with ceruloplasmin under 20mg/dL, found by screening all 2867 admissions for liver disease evaluation in Vienna in 1993 and 1994
Of 17 patients with ceruloplasmin under 20mg/dL, 1 had Wilson disease, a positive predictive value of 5.9% (Cauza 1997).Cauza 1997 ceruloplasmin screening study
How often diagnosed patients show it
Share of patients already diagnosed who had the finding, in the group named on each row. Groups differ by age and type, so read each row with its group.
- 1
Corneal Kayser-Fleischer rings on slit-lamp examination+Dysarthria, tremor, dystonia or parkinsonism+Adolescent or young adult
Patients with neurologic Wilson disease in an Austrian series of 55 patients and an Indian series of 282
Kayser-Fleischer rings were seen in 90% of neurologic presentations in Austria (Steindl 1997) and in 100% in India (Taly 2007).Taly 2007 Bangalore series
- 2
Alkaline phosphatase to total bilirubin ratio under 4+Acute liver failure with Coombs-negative hemolysis+AST to ALT ratio above 2.2
16 patients with acute liver failure from Wilson disease in the US Acute Liver Failure Study Group, among 140 with acute liver failure
An alkaline phosphatase to bilirubin ratio under 4 was found in 94% of the 16, and both ratios together were 100% sensitive (Korman 2008).Korman 2008 acute liver failure study
- 3
Low ceruloplasmin with Kayser-Fleischer rings+Liver disease of unknown cause+Child or young adult
Austrian patients with Wilson disease who presented with liver disease, within a Vienna series of 55
Only 65% of patients presenting with liver disease were diagnosed by rings plus low ceruloplasmin, while 90% of neurologic cases had rings (Steindl 1997).Steindl 1997 Vienna series
Also described, without a comparable figure
- Depression, mood change, psychosis or falling school performance + Tremor, dysarthria or worse handwriting + Raised liver enzymes or a fatty liver: No frequency for this combination was found; neurologic symptoms took 44.4 months to diagnosis against 14.4 months for hepatic symptoms (Merle 2007).Merle 2007 Heidelberg cohort
- Apparent autoimmune hepatitis in a child + Or presumed autoimmune hepatitis not responding readily to therapy + Raised immunoglobulins or nonspecific autoantibodies: No frequency for this combination was found; AASLD says these patients should be assessed for Wilson disease.AASLD 2022 guidance
These figures describe published study groups. They are not the chance that any one patient has Wilson disease, and bars whose ranges overlap are not in a settled order.
Red flags for Wilson disease
What the cited sources describe, grouped by life stage and organ. Each line links to its source.
Liver: children and young adults
- Wilson disease presents with isolated liver disease more often in children and younger adults than in older adults.AASLD 2022 guidance
- AASLD says to consider Wilson disease in anyone with liver abnormalities of uncertain cause, and not to rule it out by age alone.AASLD 2022 guidance
- Persistently raised AST and ALT or hepatomegaly, sometimes found incidentally in children with no symptoms, or isolated splenomegaly.AASLD 2022 guidance
- Fatty liver in a child or adolescent, particularly when body mass index and waist circumference are normal by pediatric standards.AASLD 2022 guidance
- Hepatitis that looks like autoimmune hepatitis, with raised immunoglobulins and nonspecific autoantibodies, or that does not respond readily to therapy.AASLD 2022 guidance
- Compensated or decompensated cirrhosis at presentation; AASLD notes AST often runs above ALT in patients with cirrhosis.AASLD 2022 guidance
Acute liver failure and hemolysis
- Acute liver failure with Coombs-negative intravascular hemolysis, coagulopathy, progressive encephalopathy and renal dysfunction is the typical Wilsonian pattern.AASLD 2022 guidance
- AASLD describes modest aminotransferase rises, typically under 2000IU/L, with normal or markedly low alkaline phosphatase, typically under 40IU/L.AASLD 2022 guidance
- The same guidance lists coagulopathy unresponsive to parenteral vitamin K, and women outnumber men by more than 2 to 1 in this setting.AASLD 2022 guidance
- Recurrent self-limited nonimmune hemolysis, or transient jaundice without obvious liver disease, which AASLD calls critical to evaluate for Wilson disease.AASLD 2022 guidance
- Hemolysis was a presenting feature in 25 of 220 cases, or 12%, in a series cited by AASLD.AASLD 2022 guidance
Movement and speech
- Dysarthria is the most common neurologic symptom at presentation, reported in 46-97% of patients across 4 case series.AASLD 2022 guidance
- Gait abnormality or ataxia, dystonia including an involuntary smile, postural tremor, parkinsonism, drooling and transfer dysphagia are also common.AASLD 2022 guidance
- Tremor, poor coordination, micrographia and loss of fine motor control tend to come earlier than rigid dystonia, per GeneReviews.GeneReviews
- Most patients with neurologic Wilson disease also have underlying liver disease, though not all have cirrhosis.AASLD 2022 guidance
- Brain MRI may show signal changes in the basal ganglia, thalami, pons and white matter, or atrophy.AASLD 2022 guidance
- In a hepatic presentation, neurologic signs may be subtle, such as worse handwriting, poor fine motor skills or slipping school performance.GeneReviews
Mood, behavior and psychiatric illness
- About 2 in 3 patients had psychiatric symptoms at the start of their illness in the studies AASLD cites.AASLD 2022 guidance
- Depression, bipolar spectrum illness, psychosis, personality change, irritability, disinhibition or a decline in school performance can all be presenting features.AASLD 2022 guidance
- AASLD reports an average of 2.4 years from psychiatric symptom onset to diagnosis, and up to 20% had seen a psychiatrist first.AASLD 2022 guidance
- Behavior change in a teenager may be put down to typical adolescent behavior or attention deficit hyperactivity disorder, the guidance warns.AASLD 2022 guidance
Eyes and other organs
- Kayser-Fleischer rings, golden-brown copper deposits near the limbus, need a slit-lamp examination by an experienced observer to identify.AASLD 2022 guidance
- Sunflower cataracts seen on slit-lamp examination, which typically do not obstruct vision.AASLD 2022 guidance
- Kidney findings such as Fanconi syndrome, aminoaciduria, microscopic hematuria or nephrolithiasis, which can itself be a presenting feature.AASLD 2022 guidance
- Cardiomyopathy, arrhythmia, pancreatitis, hypoparathyroidism, premature osteoporosis or arthritis, listed by AASLD as other organ involvement.AASLD 2022 guidance
- Women may have amenorrhea, infertility or recurrent miscarriage before Wilson disease is diagnosed and treated, according to GeneReviews.GeneReviews
Age, ancestry and family
- Symptomatic disease mainly appears between ages 3 and 55, yet genetic testing has confirmed it in patients in their 70s and 80s.AASLD 2022 guidance
- Affected siblings or parents who are related to each other; absence of a known family history does not preclude the diagnosis.GeneReviews
- Founder variants occur in people of Ashkenazi Jewish or Druze ancestry and in people from the Canary Islands and Sardinia.GeneReviews
- More than 50% of patients from Northern, Central and Eastern Europe carry at least 1 p.H1069Q allele, according to AASLD.AASLD 2022 guidance
Wilson disease is often mistaken for
Diagnoses patients commonly carry first, and why the sources say they are confused.
| First diagnosis | Why it is confused |
|---|---|
| Autoimmune hepatitis | Younger patients can have clinical and biopsy findings indistinguishable from autoimmune hepatitis, and AASLD notes both conditions may also coexist.AASLD 2022 guidance |
| Fatty liver disease or NASH | Steatosis in Wilson disease can be as severe as in NAFLD, and biopsy may show NASH features including Mallory-Denk bodies.AASLD 2022 guidance |
| Acute viral hepatitis | Some patients have a brief illness resembling acute viral hepatitis, and rare patients with viral hepatitis prove to have underlying Wilson disease.AASLD 2022 guidance |
| Acute liver failure of another cause | Aminotransferases rise only modestly in Wilsonian liver failure, which AASLD says often leads clinicians to underestimate disease severity.AASLD 2022 guidance |
| Primary sclerosing cholangitis or other cholestatic disease | Chronic cholestasis can raise urinary and liver copper, and AASLD says primary sclerosing cholangitis is sometimes hard to separate on urinary copper.AASLD 2022 guidance |
| Early-onset Parkinson disease, inherited dystonia or Huntington disease | GeneReviews lists these, along with Niemann-Pick disease type C and hereditary ataxias, in the neurologic differential diagnosis.GeneReviews |
| Schizophrenia, bipolar disorder or depression | AASLD describes patients who carried a schizophrenia diagnosis for years before Wilson disease was recognized.AASLD 2022 guidance |
| Adolescent behavior or ADHD | Irritability or moodiness in a teenager may be attributed to typical adolescent behavior or to attention deficit hyperactivity disorder.AASLD 2022 guidance |
| Aceruloplasminemia, MDR3 deficiency or a congenital disorder of glycosylation | These rare genetic disorders can mimic Wilson copper studies, and AASLD says MDR3 deficiency can even reach diagnostic Leipzig scores.AASLD 2022 guidance |
Codes patients often carry before this diagnosis
For spotting the pattern in a problem list or registry. Descriptions are checked daily against NLM's ICD-10-CM service; this is not coding advice.
K75.4AASLD says children with apparent autoimmune hepatitis, and adults not responding readily to therapy, should be assessed for Wilson disease.AASLD 2022 guidance
K76.0, K75.81GeneReviews says Wilson disease must be specifically excluded in people thought to have NASH.GeneReviews
R74.01Persistently raised aminotransferases are a common hepatic presentation, including incidental findings in children.AASLD 2022 guidance
K72.00, K72.01Wilson disease causes about 3% of acute liver failure, typically with Coombs-negative hemolysis.AASLD 2022 guidance
D59.4, D59.9AASLD calls evaluation for Wilson disease critical in patients with recurrent self-limited nonimmune hemolysis.AASLD 2022 guidance
K74.60, K74.69Many patients already have compensated or decompensated cirrhosis when Wilson disease is first diagnosed.AASLD 2022 guidance
R47.1, G24.9, R25.1Dysarthria, dystonia and tremor are among the most common neurologic findings when Wilson disease presents.AASLD 2022 guidance
F31.9, F20.9, F29Bipolar illness and psychosis occur in Wilson disease, and some patients carried a schizophrenia diagnosis for years first.AASLD 2022 guidance
Testing for Wilson disease, step by step
The testing order the cited guidance describes, by who it applies to. It summarizes published guidance and is not a plan for any one patient.
Anyone in whom Wilson disease is considered
- History and examination
AASLD guidance starts with a detailed personal and family history and an examination focused on liver, neurologic and psychiatric disease.AASLD 2022 guidance
- First blood tests
The same guidance lists liver biochemistries, a complete blood count, INR, serum ceruloplasmin and, in some patients, serum copper.AASLD 2022 guidance
- Serum ceruloplasmin
AASLD says a level under 5mg/dL more strongly suggests Wilson disease than a modestly subnormal level. Ceruloplasmin alone is insufficient for diagnosis, and a normal level does not exclude it.AASLD 2022 guidance
- Basal 24-hour urinary copper
Excretion is typically above 100µg in 24 hours in symptomatic patients. AASLD says above 40µg in 24 hours may indicate disease in asymptomatic people or children and needs further investigation.AASLD 2022 guidance
- Collecting the urine
GeneReviews advises 3 separate 24-hour collections free of outside copper contamination. It says to ask the laboratory about its trace element collection protocol first.GeneReviews
- Checking the collection
AASLD measures urine volume and total creatinine to judge completeness. It calls spot urine samples unsuitable, except possibly in acute liver failure.AASLD 2022 guidance
- Slit-lamp examination for Kayser-Fleischer rings
AASLD says identifying rings requires an experienced observer with a slit lamp, sometimes aided by gonioscopy. It describes anterior segment optical coherence tomography as a newer way to assess them.AASLD 2022 guidance
- ATP7B genetic testing
AASLD says genetic testing may be part of a routine evaluation and can confirm the diagnosis when biochemistry is not definitive. Finding pathogenic variants on both alleles of ATP7B confirms Wilson disease, according to the same guidance.AASLD 2022 guidance
Anyone having ATP7B testing
- How to sequence ATP7B
AASLD prefers analysis of the entire gene, including the promoter, with attention to large deletions. Whole-gene sequencing detects more than 99% of small coding changes.AASLD 2022 guidance
- When 1 or no variant is found
GeneReviews lists gene-targeted deletion/duplication analysis as the next step when sequencing finds 1 or no variant. It notes targeted founder-variant analysis can come first in some populations.GeneReviews
Patients who do not match the classic picture
- Leipzig score
The 2001 score combines KF rings, neuropsychiatric signs or MRI, Coombs-negative hemolysis, urinary and liver copper, ceruloplasmin and ATP7B results. AASLD reads a total of 4 or more as highly likely.AASLD 2022 guidance
- Leipzig score: the EASL-ERN view
The 2025 EASL-ERN guideline abstract says the Leipzig score, with relative exchangeable copper in addition, is recommended for diagnosis.EASL-ERN 2025 guideline
- Relative exchangeable copper
AASLD reports that a ratio of exchangeable to total serum copper above 18.5% separated Wilson disease from carriers and other liver diseases. It says further validation of the method by other clinical research groups is warranted.AASLD 2022 guidance
Clinical, biochemical or genetic results that remain unclear
- Liver biopsy with quantitative copper
AASLD says more than 250µg/g dry weight occurs in most patients, while under 50µg/g almost always excludes the disease in untreated patients. It prefers quantitative copper measurement, because histochemical copper stains have poor sensitivity.AASLD 2022 guidance
- Sending the biopsy core
AASLD says cores are taken with a disposable needle and placed in a copper-free container without added liquid. It gives a minimum dry weight of 3mg, or a core at least 1-2cm long.AASLD 2022 guidance
Patients with abnormal neurologic findings
- Brain MRI
AASLD says MRI should be considered to set a baseline and exclude other causes. It notes the face of the giant panda sign has been considered pathognomonic, though other findings are more common.AASLD 2022 guidance
Acute liver failure of unclear cause
- Ratios from routine labs
Korman and colleagues studied 140 patients with acute liver failure, 16 with Wilson disease. An alkaline phosphatase to total bilirubin ratio under 4 plus an AST to ALT ratio above 2.2 was 100% sensitive and specific.Korman 2008 acute liver failure study
- Copper studies and urgent referral
Serum copper is usually above 200µg/dL, but results often arrive late. AASLD says these patients require urgent evaluation for liver transplantation, and that the ratio approach works less well in children.AASLD 2022 guidance
Children
- Reading ceruloplasmin in children
GeneReviews says ceruloplasmin results in children need age correction or age-specific reference ranges. Ceruloplasmin is low in healthy newborns and may exceed the adult range by age 2 to 3 years.GeneReviews
Where testing goes wrong
- A normal serum ceruloplasmin was found in at least 5% of neurologic and up to 40% of hepatic presentations, in a study GeneReviews cites.GeneReviews
- Ceruloplasmin rises with inflammation, pregnancy, estrogen therapy and some oral contraceptives, and immunoassays may overestimate it, according to AASLD.AASLD 2022 guidance
- Low ceruloplasmin also occurs with renal or enteric protein loss, severe chronic liver disease, copper deficiency and in some heterozygous carriers.AASLD 2022 guidance
- The conventional urinary copper cutoff of 100µg in 24 hours may miss 16-23% of patients with Wilson disease, per AASLD.AASLD 2022 guidance
- Cholestatic disease, autoimmune hepatitis, MDR3 deficiency and nonselective proteinuria can raise urinary copper into the range seen in Wilson disease.AASLD 2022 guidance
- Calculated non-ceruloplasmin-bound copper was never validated for diagnosis, and with immunoassay ceruloplasmin it can come out zero or negative.AASLD 2022 guidance
- Copper stains have poor sensitivity, and uneven copper deposition, especially in cirrhosis, can make a biopsy underestimate liver copper.AASLD 2022 guidance
- Liver copper of 100-250µg/g dry weight overlaps with values occasionally found in carriers, so GeneReviews says that range does not exclude the disease.GeneReviews
- Kayser-Fleischer rings appear in only 44-62% of patients with mainly hepatic disease and are usually absent in children with liver disease.AASLD 2022 guidance
- The rings are not entirely specific, since they may rarely occur with chronic cholestatic disease and neonatal cholestasis.AASLD 2022 guidance
- Limited mutation panels can miss variants, and next-generation sequencing may miss large deletions and untranslated-region changes, according to AASLD.AASLD 2022 guidance
- A single pathogenic ATP7B variant plus a variant of uncertain significance neither establishes nor rules out Wilson disease, per GeneReviews.GeneReviews
- The penicillamine challenge test was standardized only in children and is not sensitive enough in asymptomatic patients, according to AASLD.AASLD 2022 guidance
- In acute liver failure, AASLD says ceruloplasmin is usually low but has poor predictive value, and Kayser-Fleischer rings are absent in 50%.AASLD 2022 guidance
- AASLD reads a Leipzig total of 2 to 3 as probable, needing more investigation, and 0 to 1 as unlikely.AASLD 2022 guidance
- GeneReviews prints the same score with different bands, calling 3 possible and 2 or less very unlikely, so check which version a report uses.GeneReviews
- GeneReviews says Wilson disease must be specifically excluded in people thought to have NASH, or the chance of life-saving treatment will be missed.GeneReviews
Where to test
- NIH Genetic Testing Registry: Wilson disease: Lists clinical ATP7B sequencing, deletion/duplication tests and multigene panels submitted by laboratories. NIH does not independently verify submissions or endorse any laboratory.NIH GTR
- 24-hour urinary copper through a trace element laboratory: GeneReviews advises asking the testing laboratory about its trace element urine collection protocol before the collection starts.GeneReviews
- Quantitative liver copper through a reference laboratory: AASLD says a core should be frozen or vacuum-dried at once and shipped following the local laboratory's directions.AASLD 2022 guidance
- NIH's Genetic Testing Registry listed 119 tests for a search of “Wilson disease” on November 12, 2026. NIH does not endorse or verify the labs it lists.
Family screening and referral
Who else in the family
- AASLD says first-degree relatives of a newly diagnosed patient must be screened for Wilson disease, even when they have no symptoms.AASLD 2022 guidance
- When the proband's ATP7B variants are known, AASLD calls genetic testing of relatives the most efficient screening strategy.AASLD 2022 guidance
- Without a known genotype, AASLD lists history, examination, serum copper, ceruloplasmin, liver tests, a slit-lamp exam and basal 24-hour urinary copper.AASLD 2022 guidance
- The same guidance says relatives without Kayser-Fleischer rings who have low ceruloplasmin and abnormal liver tests should have a liver biopsy to confirm.AASLD 2022 guidance
- If clinical testing is inconclusive and genetic testing unavailable, AASLD describes repeating the noninvasive assessment at 6 to 12 months.AASLD 2022 guidance
- AASLD adds that any relative with signs consistent with Wilson disease should be evaluated, however distant the relationship.AASLD 2022 guidance
- When both parents are carriers, each sibling has a 25% chance of being affected and a 50% chance of being a carrier.GeneReviews
- GeneReviews says ceruloplasmin, urinary copper and liver copper are unreliable for identifying carriers, and some affected relatives are hard to tell from carriers.GeneReviews
- A person with Wilson disease has about a 1 in 180 chance of an affected child, given a carrier rate near 1 in 90.GeneReviews
- Prenatal and preimplantation genetic testing are possible once both ATP7B variants have been identified in an affected family member.GeneReviews
Who to refer to
- AASLD says assessment by a neurologist specializing in movement disorders may be advantageous when unexplained liver disease comes with a neurologic disorder.AASLD 2022 guidance
- The same guidance calls psychiatric evaluation essential for any patient presenting with psychiatric or neuropsychiatric features of Wilson disease.AASLD 2022 guidance
- Patients with acute liver failure and nonimmune hemolytic anemia require urgent evaluation for liver transplantation, according to AASLD.AASLD 2022 guidance
- AASLD says input from a clinical geneticist may be extremely valuable, particularly for ATP7B variants of unknown significance.AASLD 2022 guidance
- GeneReviews advises consulting hepatologists and neurologists or Wilson disease centers of excellence, because treatment decisions can be complex.GeneReviews
- After diagnosis, GeneReviews lists genetic counseling, a complete eye exam and cardiac and kidney evaluations among the recommended assessments.GeneReviews
Find a specialist by state
From the CMS NPI Registry, a public directory of US clinicians by registered specialty. A listing is not an endorsement and says nothing about experience with Wilson disease; patient organizations and academic centers can often name experienced clinicians.
ICD-10-CM codes for Wilson disease
For orders, referrals and prior authorization. Each code is checked daily against NLM's ICD-10-CM service.
Once the diagnosis is confirmed
For the patient: why your doctor ordered this test
Plain language a patient can read or take home.
Your doctor ordered these tests because some of your symptoms or results can be a sign of Wilson disease.
Wilson disease is a rare illness that runs in families. The body cannot get rid of extra copper, so copper builds up in the liver, brain and eyes.
A blood test checks a protein that carries copper, called ceruloplasmin. A urine test collects all of your urine for 24 hours to measure copper.
An eye doctor may look at your eyes with a special lamp to check for rings of copper.
A gene test looks for changes in both copies of a gene called ATP7B. Sometimes a small piece of liver is needed to measure copper.
Wilson disease can be treated, so finding it early matters. If you have it, your brothers, sisters, parents and children should be checked too, even if they feel fine.
Questions clinicians ask about Wilson disease testing
Which combinations of findings should prompt testing for Wilson disease?
In published screening and biopsy studies, the highest yields came from liver disease under hospital evaluation plus serum ceruloplasmin under 20mg/dL (5.9% of 17 patients with ceruloplasmin under 20mg/dL, found by screening all 2867 admissions for liver disease evaluation in Vienna in 1993 and 1994). Among patients already diagnosed, the most common combination began with corneal Kayser-Fleischer rings on slit-lamp examination, seen in 90% to 100% of patients with neurologic Wilson disease in an Austrian series of 55 patients and an Indian series of 282. These figures describe study groups, not any one patient's chance of having Wilson disease.
What tests should be ordered first for suspected Wilson disease?
AASLD's 2022 guidance lists liver biochemistries, a complete blood count, INR, serum ceruloplasmin and basal 24-hour urinary copper. It adds a slit-lamp or optical tomography exam for Kayser-Fleischer rings, a neurologic evaluation and ATP7B testing where logistics allow. Its diagnostic algorithms use ceruloplasmin, 24-hour urinary copper and the eye exam as baseline testing.
Does a normal ceruloplasmin rule out Wilson disease?
No; AASLD says a ceruloplasmin within the normal range does not exclude Wilson disease and that ceruloplasmin alone is insufficient for diagnosis. GeneReviews (updated January 12, 2023) cites normal levels in at least 5% of neurologic and up to 40% of hepatic presentations.
What 24-hour urine copper level suggests Wilson disease?
AASLD says basal excretion is typically above 100µg in 24 hours in symptomatic patients, while above 40µg may indicate disease in asymptomatic people or children. It notes the 100µg cutoff may miss 16-23% of patients. Cholestatic liver disease, autoimmune hepatitis and nonselective proteinuria can also raise urinary copper.
How is Wilson disease recognized in acute liver failure?
AASLD describes Coombs-negative hemolysis, coagulopathy unresponsive to vitamin K, modest aminotransferase rises, normal or very low alkaline phosphatase and rapid renal failure. In Korman and colleagues' cohort of 140 patients with acute liver failure, 16 with Wilson disease, combining both lab ratios was 100% sensitive and specific. AASLD says these patients require urgent evaluation for liver transplantation.
What is the Leipzig score for Wilson disease?
It is a diagnostic score from the 2001 Leipzig meeting that combines Kayser-Fleischer rings, neuropsychiatric signs, hemolysis, urinary and liver copper, ceruloplasmin and ATP7B results. AASLD reads 4 or more as highly likely, and the 2025 EASL-ERN guideline recommends it alongside relative exchangeable copper. GeneReviews says it has not been validated in large series, while AASLD cites validation in adults and children. AASLD adds that MDR3 deficiency can reach diagnostic scores without Wilson disease. This page reports the published bands but does not reproduce the score's point values.
Which relatives should be screened for Wilson disease?
First-degree relatives of a newly diagnosed patient must be screened, according to AASLD, even without symptoms. When the family ATP7B variants are known, genetic testing is the most efficient strategy. Otherwise relatives have a history, examination, copper and ceruloplasmin tests, liver tests, a slit-lamp exam and basal 24-hour urinary copper.
What is the ICD-10 code for Wilson disease?
The ICD-10-CM code is E83.01, Wilson's disease, per the National Library of Medicine's ICD-10-CM lookup checked November 10, 2026.
Sources
- A multidisciplinary approach to the diagnosis and management of Wilson disease: 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases. Hepatology 2025;82(3):E41-E90, published online December 7, 2022 (Schilsky ML, Roberts EA et al; American Association for the Study of Liver Diseases), via PubMed, 2022-12-07.
- EASL-ERN Clinical Practice Guidelines on Wilson's disease. Journal of Hepatology (European Association for the Study of the Liver), via PubMed abstract, 2025-02-22.
- Wilson Disease. GeneReviews, University of Washington, Seattle, via NCBI Bookshelf (NBK1512); Weiss KH, Schilsky M, 2023-01-12.
- Diagnosis and phenotypic classification of Wilson disease. Liver International 2003;23(3):139-142 (Ferenci P et al; working party of the 8th International Meeting on Wilson Disease and Menkes Disease, Leipzig 2001), via PubMed abstract, 2003-06.
- Screening for Wilson disease in acute liver failure: a comparison of currently available diagnostic tests. Hepatology 2008;48(4):1167-1174 (Korman JD et al; Pediatric and Adult Acute Liver Failure Study Groups; NIH grant support), via PubMed Central, 2008-10.
- Wilson disease (GTR condition record, MedGen C0019202). National Center for Biotechnology Information, NIH, 2026-11-10.
- ICD-10-CM search results for "wilson" (Clinical Table Search Service). National Library of Medicine, 2026-11-10.
- Wilson's disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology 1997;113(1):212-218 (Steindl P, Ferenci P et al), via PubMed abstract; funding and disclosures not seen, 1997-07.
- Wilson disease: description of 282 patients evaluated over 3 decades. Medicine (Baltimore) 2007;86(2):112-121 (Taly AB et al, NIMHANS), via PubMed abstract; funding and disclosures not seen, 2007-03.
- Screening for Wilson's disease in patients with liver diseases by serum ceruloplasmin. Journal of Hepatology 1997;27(2):358-362 (Cauza E, Ferenci P et al), via PubMed abstract; funding and disclosures not seen, 1997-08.
- Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study. Gut 2007;56(1):115-120 (Merle U et al; no competing interests declared), via PubMed abstract, 2007-01.
A reference for licensed professionals, checked against its sources on November 10, 2026. It summarizes what the cited guidance says and does not tell anyone how to diagnose or treat a specific patient. Guidelines change; the current guideline and the treating clinician's judgment govern. Trial Friend is an independent information service, not a medical provider.