Hereditary haemochromatosis in a man of Pakistani descent

Abstract

A 35-year-old Pakistani man, resident in the UK, was referred to his local hospital because of general malaise, weight loss and mildly deranged liver function tests. His medical history included a recent diagnosis of insulin-dependent diabetes mellitus, and previous investigations for testicular atrophy and azoospermia. He drank no alcohol. Clinical examination was unremarkable. Specifically, there were no cutaneous stigmata of chronic liver disease, and abdominal palpation was unremarkable with no hepatosplenomegaly. Blood tests showed deranged liver enzymes: ALT was 92 U/l (normal range <40 U/l), alkaline phosphatase was 155 U/l (normal range <125 U/l). Serum albumin was normal at 39 g/l, bilirubin normal at 8 μmol/l. Subsequent serological testing for hepatitis B, hepatitis C and autoimmune liver disease was all negative, but his serum ferritin was grossly elevated at 3985 μg/l (normal range 30–365 μg/l) and his iron transferrin saturation was 89% (20–50%). Liver ultrasound scanning was normal but liver biopsy revealed severe (Grade 4) liver cell siderosis with the appearances of haemochromatosis with extensive fibrosis (Figure 1). Figure 1. Liver biopsy: ( A ) hematoxylin and eosin staining showing iron (staining brown) within hepatocytes and fibrosis. ( B ) Perls staining showing severe liver cell siderosis. There is striking blue staining of granular iron deposits within hepatocytes, outlining the bile canaliculi. In view of the new diagnosis of haemochromatosis and his previous fertility problems, his pituitary function was assessed. He had normal …