Wilson's disease presenting as haemolytic anaemia.

W ilson disease in an autosomal recessive disorder usually presenting with hepatic, neurologic and psychiatric manifestations. Other features include cholelithiasis, nephrolithiasis, osteoarthritis and hemolysis. We report a case of haemolytic anaemia and lab findings suggestive of Wilson disease lacking the other clinical manifestations of the disease A 16 year old male presented with generalized weakness and fatiguability on exertion since 1 year. There was no h/o fever, jaundice, blood transfusion or any other chronic illness. On examination, there was severe pallor alongwith mild splenomegaly. Rest of the cardiac, respiratory, GIT and CNS examination was normal. Lab investigations revealed normocytic – normochromic anaemia with Hb 6gm%. LDH was markedly raised 3235U/l. Corrected reticulocyte count was 3.79.Rest of hemogram was normal. Renal function tests were normal. SGOT /SGPT were 330U/l and 411U/l respectively. Serum bilirubin was 1.9mg/dl (direct-0.7, indirect 1.2). Serum total proteins and PT (INR) were normal. Serum alkaline phosphatase was 500U/l. 24 hr urinary copper was 1140 µg (markedly raised). Serum ceruloplasmin level was decreased (< 25mg/dl). USG abdomen revealed altered echotexture of liver with bilateral pleural effusion. USG guided pleural tap was done which was transudative in nature. There was no K-F ring on slit lamp examination. A final diagnosis of Wilson disease with haemolytic anaemia was made. He was given 1 unit blood transfusion and started on oral penicillamine and pyridoxine. Follow up and monitoring of anticopper therapy was done using serum free copper levels alongwith twice weekly blood counts and biochemical profile for 1 month, then monthly thereafter. Wilson disease is an autosomal recessive disorder caused by mutation in the ATP7b gene 1 with an incidence of 1 in 40,000. ATP7b protein deficiency impairs biliary copper excretion leading to hepatic copper accumulation and copper toxicity from oxidant damage. 2 With disease progression serum free copper levels increase resulting in copper accumulation in different tissues such as brain leading to neurologic and psychiatric manifestations. Liver and CNS are the usual targets of Wilson disease. Hepatic manifestations can include an initial episode of hepatitis or recurrent episodes of hepatitis leading to cirrhosis. 3 Neurological manifestations include dystonia, incoordination, tremor, autonomic disturbances, memory loss, seizures etc. Psychiatric disturbances include depression, hyperactivity, loss of emotional control and loss of sexual inhibition. Hemolysis in Wilson disease probably results from the toxic effects of free copper on RBC membrane. Other manifestations include Kayser-Fleischer ring on slit lamp examination, renal tubular acidosis, arthritis and …