Hepatology clinic with abdominal distension

Reference no: EM133604952

A 39-year-old restaurant owner was seen in the hepatology clinic with abdominal distension. Wilson's disease had been diagnosed 25 years before. One of his siblings also had Wilson's disease. He had been prescribed penicillamine, but had taken it erratically over the years: generally for just 3 weeks before each clinic appointment. His weight had increased by 6kg and he had ankle oedema in addition to abdominal distension, which had improved on spironolactone 100mg/day. He had restarted penicillamine 1g/day. He had travelled to Africa 5 months before. He drank eight units of alcohol per week. He had never had a blood transfusion and had no tattoos. On examination his pulse was 72bpm and blood pressure 140/80mmHg. He was apyrexial, with normal cardiorespiratory examination. He had spider naevi, but was not jaundiced. He had 4cm hepatomegaly, shifting dullness and a brownish discoloration around the periphery of the iris, in keeping with Kayser-Fleischer rings. Neurological examination was normal. Investigations in clinic showed:

• Hb 13.3g/dL, WCC 5.8 x109/L, platelets 96 x109/L

• Prothrombin time 20.5 sec, INR 1.5

• Na 137mmol/L, K 3.8mmol/L, creatinine 83 mol/L

• Bilirubin 46mol/L, ALT 126 IU/L, ALP 275 IU/L, albumin 28g/L

• IgG 21.9g/L

• Caeruloplasmin <9.7mg/dL

Reference no: EM133604952

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