Clinical Case Database / Category: Patient Management
Investigating raised serum ferritin
Edward J Fitzsimons, Dr Nigel Tapiwa Mabvuure
Foundation Years Journal, volume 9, issue 3, p.52 (123Doc Education, London, March 2015)
This report describes the case of a 59 year old Scottish Caucasian woman with a history of alcohol excess and bipolar disorder was referred to the Haematology clinic after investigations revealed a serum ferritin (SF) level of 5346 ug/l (reference range 10 - 275 ug/l). Molecular testing revealed that the patient was homozygous for the C282Y mutation, confirming the diagnosis of hereditary haemochromatosis.
However, since the patient had an excessive alcohol intake, deranged LFTs, clinical features of chronic liver disease and an abnormal appearance of left lobe of the liver, alcoholic liver disease might have been accepted as the sole explanation for her hyperferritinaemia. This case demonstrates the challenge of differentiating causes of hyperferritinaemia, especially in patients in whom more than one potential explanation exists. Investigations which may help in this regard are discussed as a prompt to Foundation Year trainees who may be consulted by such patients who may present to haematology, rheumatology or gastroenterology.
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Edward J Fitzsimons
Consultant Haematologist, Dept of Haematology,
Gartnavel General Hospital, Glasgow, G12 0XL
Dr Nigel Tapiwa Mabvuure (Corresponding author)
Academic FY2, Dept of Haematology,
Gartnavel General Hospital, Glasgow, G12 0XL
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4. Fargion S, Mattioli M, Fracanzani AL, Sampietro M, Tavazzi D, Fociani P, et al. Hyperferritinemia, iron overload, and multiple metabolic alterations identify patients at risk for nonalcoholic steatohepatitis. Am J Gastroenterol. 2001 Aug;96(8):2448-55.
5. Rossi E, Olynyk JK, Cullen DJ, Papadopoulos G, Bulsara M, Summerville L, et al. Compound Heterozygous Hemochromatosis Genotype Predicts Increased Iron and Erythrocyte Indices in Women. Clinical Chemistry. 2000 February 1, 2000;46(2):162-6.
6. Limdi JK, Crampton JR. Hereditary haemochromatosis. QJM. 2004 Jun;97(6):315-24.
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About the Clinical Cases Database
The Foundation Years Clinical Cases Database is a selection of 600 peer-reviewed clinical cases in the field of patient safety and clinical practice, specifically focused on the clinical information needs of junior doctors, based around the Foundation Year Curriculum programme (MMC). The cases have been chosen to align with the Foundation Year Curriculum.
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