Gastro: Wilson's Disease: Free MSRA Podcast

 🎧FREE MSRA PODCAST –Wilson’s DiseaseIn this episode, we unpack Wilson’s Disease — a rare yetcrucial differential in young patients with liver, psychiatric, or neurological issues.  🧠Key Learning Points📌Definition• Wilson’s Disease is a rare autosomal recessive disorder caused by defective copper transport, leading to copper accumulation in the liver, brain,and other organs.• Caused bymutations in the ATP7B gene on chromosome13. 📌Causes & RiskFactors• Autosomal recessive inheritance — both parentsmust be carriers• Mutation in the ATP7B gene• Family history ofWilson’s is the strongest risk factor• Onset usuallybetween ages 5–35, but can be earlier orlater 📌Pathophysiology• Faulty ATP7B → impaired copper excretion via bile• Copper accumulates in liver first → spills intoblood → deposits in brain, kidneys, cornea• Causes hepatocellular damage, neurological dysfunction, and psychiatricsymptoms 📌Clinical FeaturesHepatic• Hepatomegaly,jaundice• Chronic hepatitisor cirrhosis• Fulminant hepaticfailure ± Coombs-negative hemolytic anaemiaNeurological• Asymmetrical tremor (rest, postural, kinetic)• Dysarthria, ataxia,poor coordination• Dystonia, chorea,pseudo-bulbar palsy• Drooling, clumsinessPsychiatric• Mood disorders(e.g. depression, irritability)• Personalitychanges• BehaviouralproblemsOcular• Kayser–Fleischer rings (brown/green iris edge)– present in >90% with neurological symptoms• Sunflower cataracts (seen on slit lamp)Other systems• Renal: Fanconi syndrome, hypercalciuria• MSK: Osteopenia,joint pain• Cardiac:Arrhythmias, cardiomyopathy• Endocrine:Hypoparathyroidism, infertility• Bluish nails(lunulae) 📌DifferentialDiagnosis• Viral hepatitis• Autoimmunehepatitis• Alcoholic liverdisease• NAFLD• Neurodegenerativeconditions• Psychiatricillness• Haemochromatosis 📌Diagnosis✅ Key Investigations:• Slit lamp exam: Kayser–Fleischerrings• Serum ceruloplasmin: typically low (<0.2 g/L)• 24-hour urinary copper: elevated• Liver biopsy: high hepatic copper content• Genetic testing: ATP7B mutation• MRI brain: basal ganglia changes (if neurosigns) 📌ManagementChelation Therapy• Trientine (preferred first-line) • Penicillamine (more side effects) • Promote urinary copper excretionZinc Therapy• Zinc acetate blocks intestinal copper absorption • Useful in maintenance & pregnancyDietary Measures• Avoid shellfish, liver, nuts, chocolate, mushroomsMonitoring• Regular LFTs, FBC, renal function, urinary copper• Slit lamp eye exams• Neurological and psychiatric reviewLiver Transplant• Indicated in acute liver failure or end-stage liver disease• Curative for Wilson’s — new liver handles copper metabolismDeep Brain Stimulation (DBS) • For refractory neurological symptoms in select patients 📌Prognosis &Complications• Excellent with early diagnosis and consistenttreatment• Reversible neurological and eye signs if caughtearly• Without treatment→ liver failure, severe neuropsychiatric disability, death• Cirrhosis may still develop, but hepatocellular carcinoma is rare• Sibling screeningis essential — 25% risk 📎More MSRA Resources for Wilson’s Disease📝 Revision Notes:https://www.passthemsra.com/topic/wilsons-disease-revision-notes/🧠 Flashcards:https://www.passthemsra.com/topic/wilsons-disease-flashcards/💬 Accordion Q&A Notes:https://www.passthemsra.com/topic/wilsons-disease-accordion-qa-notes/🚀 Rapid Quiz:https://www.passthemsra.com/topic/wilsons-disease-rapid-quiz/🎓 Full Course:https://www.passthemsra.com/courses/gastroenterology-for-the-msra/ #MSRA #MSRARevision#WilsonsDisease #MSRAGastro #KayserFleischerRings #ChelationTherapy#RareDiseases #GastroMSRA #CopperMetabolism #PassTheMSRA #MSRAFlashcards#MSRAQuiz #MSRAQandANotes #MSRAOnlineRevision #MSRARevisionWebsite