A261 SEVERE ACUTE LIVER INJURY SECONDARY TO WILSON’S DISEASE: A CASE REPORT AND REVIEW OF THE LITERATURE
Notice bibliographique
Résumé
Abstract Background Wilson’s disease is autosomal recessive and rare (prevalence 1/30000-1/50000) caused by mutations in the ATP7B gene involved in copper excretion. Copper deposition drives hepatic injury, along with neuropsychiatric-ophthalmologic, and hematologic symptoms. Leipzig criteria greater than 4 establishes the diagnosis. Purpose We report a case of severe liver injury secondary to probable Wilson’s disease. Method Literature review of diagnosis, management including emerging therapies was performed using PubMed. Result(s) A 29-year-old otherwise healthy male with no family history of liver disease presented with abdominal pain, jaundice, and severe acute liver injury (ALT 1534 U/L ALP 114 U/L bilirubin 113 umol/L) initially misdiagnosed as hepatitis A in community urgent care. He had worsening liver injury (ALT 1809 U/L bilirubin 411 umol/L), with normal INR and no encephalopathy over an additional 3 weeks and was admitted to our tertiary care centre for further work up. History did not reveal viral prodromes, herbals or natural remedies. CBD oil was the only potential exposure, though longstanding use of the same brand argued against this as a cause. Chronic liver disease workup was negative (viral hepatitides, SARS-CoV-2, alpha-1-antitrypsin, acetaminophen level, iron profile, and comprehensive Mitogen autoantibody panel). Patent vasculature on Doppler US. Liver biopsy showed diffuse lobular inflammation, hepatocyte necrosis, 30% parenchymal involvement, primarily lymphocytes with some eosinophils and plasma cells, and no viral inclusions suggesting acute hepatitis with drugs or viral hepatitis as etiologies. The 24-hour urine copper was elevated at 2.19 umol/d (<0.80). Biopsy copper dry weight 60mcg/g (N<50; >250 diagnostic). Normal ceruloplasmin 0.30g/L and serum copper 25.8 umol/L. MRI brain not suggestive of Wilson’s disease, no Kayser-Fleischer rings on Ophthalmology assessment, and no hemolysis. Given a Leipzig score of 3 suggesting possible Wilson’s disease he was started on penicillamine 1500mg daily. Five weeks later he had serologic (ALT 1061 U/L bilirubin 128 umol/L) improvement, yet elevated elastography at 22kPa IQR 5% likely due to inflammation. Given coverage issues, he was switched to compassionate trientine 500mg BID with further improvement (ALT 347 U/L bilirubin 26 umol/L). Sequencing for ATP7B gene mutations are pending (Blueprint Genetics). Conclusion(s) Wilson’s disease should be considered in those with hepatic or neuropsychiatric symptoms, transaminases in the 1000s or acute liver failure. Treatment is lifelong with typically good prognosis and is fatal if untreated. Treatment options include chelators D-penicillamine (first line, with side effects including proteinuria and worsened neurological symptoms) and trientine (fewer side effects). Zinc prevents copper absorption and can be used in asymptomatic patients. Transplant in acute liver failure and end-stage liver disease is guided by the King’s score. Several novel therapies including gene therapy are in development. Please acknowledge all funding agencies by checking the applicable boxes below None Disclosure of Interest None Declared
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Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,002 | 0,001 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,000 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,001 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».