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A 22 year old woman was referred because of hepatomegaly and episodes of mild abdominal pain. She had no history of alcohol abuse and she had taken no medication (no oral contraceptive pills). She had never been transfused and had no known exposure to hepatotoxic chemicals. There was no family history of liver disease. There was hepatosplenomegaly on presentation. There was no ascites and no stigma of chronic liver disease.
Laboratory data showed a white blood cell count of 6.0 × 109/l (normal range 4.0–10.0), red blood cell count 4.0 × 1012/l (3.8–5.8), haemoglobin concentration 90 g/l (120–160), a packed cell volume 0.38 (0.38–0.42), platelet count 220 × 109/l (150–400), and red cell volume 28 ml/kg (<32). Spontaneous erythroid colonies developed in serum which contained only trace amounts of erythropoietin. The prothrombin level was 0.60 (0.70–1.0), serum bilirubin 17.1 μmol/l (1.7–20.5), alkaline phosphatase activity 92 UI/l (30–100), aspartate transaminase activity was 18 UI/l (<40), and albumin 32 g/l (35–52). Antismooth muscle antibody, antinuclear antibody, and antimitochondrial antibody were not detectable. The ceruloplasmin level was normal.
Antibody to hepatitis C virus (by enzyme linked immunoabsorbent assay), hepatitis B surface antigen, and antibody to hepatitis B surface antigen were all negative. The ferritin was 10 μg/l (36–255), total iron binding capacity 34.4 μmol/l (44.8–80.6), serum iron 8.4 μmol/l (16.1–28.7), and transferrin saturation 24% (30–40). The HIV antibody test was negative. Concentrations of antithrombin III, protein C, and protein S were normal. Bone marrow examination with karyotype showed no abnormality.
Upper endoscopy showed grade II oesophageal varices. The major hepatic veins were not seen at duplex Doppler ultrasonography in colour mode, however an enlarged subhepatic accessory vein was draining a hypertrophic caudate lobe. The same patterns were found on magnetic resonance imaging (MRI) (fig 1) and magnetic resonance angiography. The patient refused a liver biopsy. She was treated with anticoagulants. After 16 months of follow up, the patient was asymptomatic.
- What is the syndrome presented by this patient?
- What is the underlying disease?
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