{"type":"rich","version":"1.0","provider_name":"Transistor","provider_url":"https://transistor.fm","author_name":"Board Pearls","title":"Chapter 22, Ep 2 of 3: Wilson Disease","html":"","width":"100%","height":180,"duration":586,"description":"Episode two takes the other metal-handling disease, Wilson, where the toxin is copper and the ATP7B pump fails at two coupled jobs: pushing copper into bile and loading it onto ceruloplasmin. The diagnostic logic is harder because no single test stands alone, so the Leipzig score integrates weighted features and the chelator choice turns on the speed and site of copper movement. Low ceruloplasmin, high urinary copper, the fulminant fingerprint, and trientine-plus-zinc therapy run through the episode. The board traps are the young steatohepatitis patient without metabolic syndrome and the misread fulminant case that costs the transplant window.\n \nTopics covered\n\nATP7B and the failed copper exit\nLow ceruloplasmin from accelerated degradation\nKayser-Fleischer rings and sunflower cataracts\nHepatic and neuropsychiatric phenotypes\nLeipzig diagnostic score and copper tests\nThe fulminant Wilson fingerprint\nTrientine, penicillamine, and zinc\nMonitoring with urinary and free copper\nPregnancy and contraception traps\n \n \nKey decisions\n\nDiagnose Wilson with at least two of five features (Kayser-Fleischer rings, ceruloplasmin under twenty, typical neurologic symptoms, twenty-four-hour urinary copper over forty, hepatic copper over two hundred fifty) using the Leipzig score, where four or higher establishes it.\nA ceruloplasmin over thirty essentially excludes Wilson because synthetic capacity is intact, and a hepatic copper under thirty-five excludes it; the intermediate band triggers molecular testing.\nConsider Wilson in any patient from about three to forty-five with unexplained liver disease, and specifically in a young steatohepatitis patient with no metabolic syndrome features.\nFirst-line chelation is trientine over penicillamine for neurologic Wilson because penicillamine causes paradoxical worsening in up to half; zinc induces enterocyte metallothionein and is for maintenance or pre-symptomatic patients only.\nTrientine chelates oral iron into a toxic complex and chelates...","thumbnail_url":"https://img.transistorcdn.com/-FuAdDBcPDLhEoUmroZKtOBRvuBn_FHPpYlh41hOnU4/rs:fill:0:0:1/w:400/h:400/q:60/mb:500000/aHR0cHM6Ly9pbWct/dXBsb2FkLXByb2R1/Y3Rpb24udHJhbnNp/c3Rvci5mbS9iNzlh/ZTU4Y2MzNWExMjQ5/MjA5OWMwMmI3ZTk5/NGFiZS5wbmc.webp","thumbnail_width":300,"thumbnail_height":300}