O-38 FULMINANT WILSON: A WELL-DEFINED ENTITY. HOW TO DIAGNOSE IT QUICKLY TO PREVENT MORTALITY

Abstract

Introduction and Objectives: Mccullough published in 1983 a series of 3 cases from the Mayo Clinic and nine from the rest of the world, proposing a specific clinical entity of Wilson´s disease (WD) with a fatal outcome if not transplanted. Costa Rica has the highest incidence of Wilson´s disease in the world (5.2/100.000 inhabit); we found in a total population of patients, 5.8% of fulminant Wilson (FW) (7/120 patients), and in a pediatric population, 14.7% (5/34 children). This study aimed to define FW as an entity by its clinical, biochemical, histological and genetic characteristics to diagnose earlier because of its high mortality. Materials and Methods: We analyze the publications and cases of WF from Costa Rica up to 2020 and also review the literature around the world. Results: WF is diagnosed principally in patients without the previous diagnosis of WD, principally in female patients (90%), with an onset between 10 and 21 years of age. Manifestations usually start with encephalopathy in the first eight weeks of symptoms, associated with fever peaks higher than 38°C, rapidly progressing jaundice, significant leukocytosis, sudden coombs negative hemolytic anemia, with total hyperbilirubinemia greater than 35 mg/dl, mild elevation of transaminases and alkaline phosphatase, prothrombin less than 20%, acute renal failure, ceruloplasminemia less than 10mg/dl, urinary cooper greater than 1000µg and elevated serum cooper. Micro vesicular steatosis, submassive necrosis, regenerative nodules, canalicular cholelithiasis, levels greater than 600ug/g dry weight in the liver, and hemoglobinuric necrosis in the kidney are also seen. Genetically all with a homozygous Pn1270 S mutation. With a fatal clinical course if not transplanted. Conclusions: Patients with fulminant liver failure with coombs negative hemolytic anemia and clinical, biochemical, histological and genetic characteristics define FW, therefore, requesting priority one liver transplantation in identified patients it's a necessity.