Clinical presentation

A 21-year-old Caucasian male presented with a short history of epigastric pain and weight loss. Physical examination revealed splenomegaly only. Renal biochemistry and full blood count were normal. There were minor elevations in liver enzymes. A contrast-enhanced abdominal CT scan identified splenomegaly with infarcts, and portal and splenic vein thrombosis without cavernoma formation (figs 1 and 2). A thrombophilia screen comprising anticardiolipin immunoglobulin G (IgG) and lupus anticoagulant, factor V Leiden and prothrombin gene mutation analysis, protein C and S quantification and screening for paroxysmal nocturnal haemoglobinuria was normal. Bone marrow architecture was normal, with a non-significant increase in megakaryocyte count. The BCR-ABL oncogene was absent.