Case 71 – update 2

The causes of high ferritin include:

  • Any inflammation including rheumatological conditions and renal failure
  • Infections
  • Liver disease
  • Chronic blood transfusion
  • Haemochromatosis
  • Myelodysplasia
  • Porphyria cutanea tarda
  • Hereditary hyperferritinaemia cataract syndrome
  • Inherited anaemias including sideroblastic anaemia, congenital dyserythropoietic anaemia and some inherited haemolytic syndromes
  • Thalassaemia (even without blood transfusion)
  • Haemophagocytic lymphohistiocytosis
  • Gaucher’s disease
  • Acaeruloplasminaemia (increased ferritin, normal T sats)
  • Hallervoden-Spatz syndrome (neurological/ataxia with brain iron accumulation)
  • Freidrich’s ataxia
  • Neuroferritinopathy


It is relatively easy to exclude some of the very rare causes of a high ferritin. He has no history of blood transfusion and clearly has no evidence of thalassaemia or myelodysplasia. From the history and examination there is no evidence of inflammation. He potentially has some liver disease as he does drink too much alcohol and his ALT is elevated. A CRP and ESR are normal. Therefore the main differentials are liver disease and haemochomatosis.


He has no relevant family history although both his parents died of vascular disease due to heavy smoking in their 60s. He was a blood donor in early life but not for a number of years.

Further investigations reveal:

  • Transferrin saturations: 85%
  • Hepatitis B surface antigen and core antibody: negative
  • Hepatitis C antibody: negative
  • Caeruloplasmin 1.9μmol/L (1.5-2.7)
  • CRP<5
  • U&E normal
  • Alpha fetoprotein <7kU/mL
  • USS liver – possible mild fatty change


He has some genetic tests which state:

  • This patient is homozygous for the C282Y mutation in the HFE gene consistent with haemochromatosis


Questions (please reply with #TeamHaem in your tweet!)

  • The patient is diagnosed with haemochromatosis – what is the initial management strategy?
  • Would you do a liver biopsy?


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