Aritra Saha1,*, Jinku Ozah1, Mriganka Deka1, Ajit Kumar Pegu2, Somnath Saha Roy1, Sofiur Rahman1, Yash Duseja1
1Postgraduate trainee, Department of Medicine, Assam Medical College & Hospital, Dibrugarh, Assam, India
2Professor & Head, Department of Medicine, Assam Medical College & Hospital, Dibrugarh, Assam, India
*Corresponding author: Dr Aritra Saha, Department of Medicine, Assam Medical College & Hospital, Dibrugarh, PIN 786002, Assam, India. Tel: +91-9401650438, Email: [email protected]
Received Date: December 9, 2022
Publication Date: December 15, 2022
Citation: Saha A, et al. (2022). Aplastic Anemia in Wilson’s Disease: A Rare Complication. Mathews J Case Rep. 7(3):78.
Copyright: Saha A, et al. (© (2022)
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, neuro-psychiatric 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.
Keywords: Wilson’s disease, Aplastic anemia, Bone marrow failure