Aplastic Anemia in Wilson’s disease: A Rare Complication

Wilson’s Disease (WD) is an autosomal recessive disease characterized by an excess of copper buildup in the body due to mutations in ATP-7B gene. Wilson’s disease primarily affects liver and basal ganglion of brain, and therefore patients predominantly have hepatic, neuropsychiatric manifestations, which may vary from an asymptomatic state to life threatening fulminant hepatic failure. Diagnosis depends on a high clinical suspicion, typical neurological symptoms, presence of KF ring, decreased serum ceruloplasmin concentration, raised 24 hours urinary copper levels and genetic studies in selected individuals. Pancytopenia due to bone marrow failure is an extremely rare finding in a patient with WD and the exact mechanism for the same is unknown. Here we present the case of a 22-year-old female who presented with features of severe anemia and was eventually diagnosed as a case of WD with bone marrow failure and to the best of our knowledge is a third such case reported worldwide.