Wilson’s Disease: First Report of Two Combined Mutational Variants in a Portuguese Patient

Wilson’s disease is a rare autosomal recessive condition. A defect on the copper carrier protein ATP7B prevents the excretion of copper, which then accumulates in several organs. The prognosis of Wilson’s disease is favourable if the diagnosis is made early. The Leipzig criteria standardized phenotypic classification and diagnostic criteria, thus simplifying the diagnostic approach. A search for ATP7B mutations is not necessary for diagnostic purposes and studies of genotype–phenotype correlation have not produced any conclusive evidence so far. More information is needed to reliably assess the prognosis for each patient. Here we describe a young patient with a combination of two mutational variants: c.3402del and c.3061-12T>A. To our knowledge, this is the first report of this compound heterozygote genotype. LEARNING POINTS: Wilson’s disease should be suspected in a young patient with subacute liver failure. The diagnostic approach to Wilson’s disease can be difficult as there are a great variety of clinical scenarios. Further studies on matching genotypic variations with clinical phenotypes could improve the diagnosis and treatment of these patients.