Abstracts of the 2022 Annual Meeting of the ALEH
More infoMccullough 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 MethodsWe analyze the publications and cases of WF from Costa Rica up to 2020 and also review the literature around the world.
ResultsWF 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.
ConclusionsPatients 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.
