Unexplained Hyperferritinaemia – A Diagnostic Dilemma
O Aoko, MS Ismail, A Peters, A Capplis, M Jobling, S Sengupta, J Keohane
Gastroenterology Department/Our Lady of Lourdes Hospital Drogheda & Louth County Hospital Dundalk
Elevated serum ferritin concentrations are common in clinical practice, often prompting referral for further evaluation. Hyperferritinaemia can be caused by a variety of systemic conditions, including hereditary, infective, neoplastic and inflammatory processes. Over the last five years we have experienced a steady increase in the number of referrals for hyperferritinaemia.
To analyse our diagnostic and management approach for patients referred with unexplained hyperferritinaemia.
We retrospectively analysed patients referred to the gastroenterology services of Our Lady of Lourdes Hospital Drogheda and Louth County Hospital Dundalk for hyperferritinaemia, from 2012-2015. We evaluated their medical history, laboratory, radiological and histological investigations.
A total of 448 patients were referred to our services for hyperferritinaemia from 2012 to 2015, 46(10.3%) of these patients had unexplained hyperferritinaemia while the remaining 402(89.7%) patients had hereditary haemochromatosis. Our study showed a male preponderance, with 36(78.3%) males and 10(21.7%) females. The mean age was 62.8 (38 – 88). 31(67.4%) patients had co-morbidities including Diabetes mellitus, Hypertension, Hyperlipidaemia, Ischaemic heart disease and elevated body mass index. Transferrin saturation was done in 37(80.4%) patients, 26(70.3%) of these patients had normal or low transferrin saturation while 11(29.7%) had elevated transferrin saturation. Evaluation of liver function tests showed that 34(73.9%) patients had normal liver function tests while 12 (26.1%) had abnormal tests. Liver ultrasound was performed on 31(67.4%) patients, with normal findings in 20(64.5%) patients and fatty infiltration in 8(25.8%). Furthermore, liver MRI was performed in 7(15.2%) patients with 4(57.1%) patients having elevated Liver iron concentration and 3(42.7%) patients having normal liver iron concentration. In addition, out of the 46 patients studied, 6(13%) patients had a liver Biopsy performed, with 3(50%) patients showing grade 1-2 hemosiderosis. Moreover, 11(23.91%) patients had a trial of phlebotomy, with ensuing normalisation of their serum ferritin. The cause of hyperferritinaemia could be explained in 23(50%) patients as shown in Table 1 below, while hyperferritinaemia remain unexplained in 23(50%) patients.
Our study highlights the significant challenge associated with hyperferritinaemia. The growing number of referrals has subsequently led to an increase use of hospital resources in the diagnosis and management of patients with elevated serum ferritin. Furthermore, the lack of a specific guideline for hyperferritinaemia is an issue that needs to be addressed in the future. Table 1: Potential Causes of Hyperferritinaemia Potential Causes Number (%) Serum Ferritin (Range)μg/l Alcohol 13(28.3) 303 – 3900 NAFLD 7(15.2) 258 – 697 Rheumatoid Arthritis 1(2.2) 436 – 851 Porphyria Cutanea Tarda 1(2.2) 345 – 535 Lymphoma 1(2.2) 1134 – 1672