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A 39-year-old woman presented with profound hypercholesterolaemia (83 mmol/L) before developing classical symptoms of PBC. She required urgent plasmapheresis which continued regularly for 40 months. Six years from presentation, both liver function tests and lipid levels stabilised on medical treatment and she remains asymptomatic of any vascular disease. Case historyA 39-year-old woman had a fasting lipid profile after a wellwoman check in March 2005. Her TC was 44.9 mmol/L, TG 15.9 mmol/L (normal range 0.6-1.5mmol/L), HDL cholesterol 0.33 mmol/L (normal range 0.9-2.4), TC:HDL ratio 36.1. Other results included fasting glucose 5.7 mmol/L, urea 3.6 mmol/L, creatinine 63 µmol/L, potassium 3.6 mmol/L and sodium 125 mmol/L, consistent with pseudohyponatraemia due to the lipaemic sample. She was asymptomatic with no prior medical illnesses. There was no significant family history of hyperlipidaemia or vascular disease. She did not smoke but drank 20 units of alcohol per week. Pravastatin 20 mg was commenced but stopped a week later because of a generalised rash. She was referred to endocrinology as this was before the establishment of a lipid service.Over the next 10 weeks, she became gradually more unwell with fatigue, widespread itching and easy bruising. She lost 10 kg and became jaundiced. On examination, she had palpable hepatosplenomegaly. No stigmata of chronic liver disease or hyperlipidaemia were found.Bloods showed a TC 83 mmol/L, TG 16.3 mmol/L, HDL 0.46, TC:HDL ratio 181.5. Her LFTs were ALP 1589 iu/L (30-95), AST 220 iu/L (12-40), bilirubin 58 µmol/L (3-20), total protein 81 g/L (63-81), albumin 33 g/L (37-50). Other results were sodium 107 mmol/L, haemoglobin 12.1 g/dL (12-16) and INR 0.9 (0.8-1.2).Abdominal ultrasound showed hepatomegaly, marked splenomegaly of 19 cm, with patent portal vein, hepatic veins and arteries. Further blood results revealed bile acids 363 µmol/L (0-20); hepatitis B and C serology were negative. Her ANA and anti-LKM antibodies were negative but she was moderately positive for anti-SmM and AMA. Thyroid function was normal. Serum electrophoresis showed polyclonal increase in gamma region with uninterpretable immunoglobulin levels due to the lipaemia.In view of the risk of hyperviscosity syndrome, she was started on plasmapheresis, continuing as regular fortnightly sessions. Cholestyramine 4 g four times a day and UDCA 250 mg twice daily were commenced.

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