Hyperferritinemia and suspected iron overload in patients at the Pablo Tobón Uribe Hospital, between 2010 and 2020
DOI:
https://doi.org/10.52784/27112330.167Keywords:
ferritin, iron overload, hemochromatosis, gene, non-alcoholic fatty liver disease.Abstract
Introduction. The aim of this investigation was to compare the biochemical and clinical profile of patients with secondary hyperferritinemia caused by hereditary hemochromatosis (HH), versus those with hyperferritinemia due to suspected causes of iron (Fe) overload other than HH. Methodology. A total of 92 patients (61 men and 31 women) referred after the detection of ferritin values >300 μg/L in men and >200 μg/L in women were studied. General demographic data, comorbidities, referral reasons for hyperferritinemia studies, clinical manifestations, family history of HH, and treatment received were analyzed in all patients. The results of laboratory tests, medical imaging, histopathological findings, and genetic studies were described based on availability. Results. Of all patients, 96.74% were evaluated as outpatients, 86,96% from the municipality of Medellin in Antioquia, Colombia. The average age of the participants was 52 years, the main reason for being referred for studies was the elevation of serum Fe markers, the most frequent cause of hyperferritinemia in the population studied were conditions other than HH (64.13%), and among those who did not have HH, the metabolic etiology was the most common cause (60%). Patients with HH had higher levels of ferritin and serum Fe, while in the group without HH there were greater elevations of transferrin saturation, transferrin and transaminases. In patients with iron overload, the most frequently found mutation was the homozygous H63D (36.67%). Finally, 93.94% of the patients with HH received phlebotomy treatment, while changes in lifestyle were indicated in 55.93% of patients without HH. Conclusions. Hyperferritinemia is a frequent clinical presentation and it is important to make a systematic approach to identify its causes. Although HH is an important cause of persistent ferritin elevation, in the approach to patients with this condition, more frequent etiologies such as hyperferritinemia of metabolic etiology should be ruled out.
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References
Dunn LL, Suryo-Rahmanto Y, Richardson DR. Iron uptake and metabolism in the new millennium. Trends Cell Biol 2007;17:93-100. https://doi.org/10.1016/j.tcb.2006.12.003.
Conde-Diez S, de Las Cuevas-Allende R, Conde-García E. Current status of iron metabolism: Clinical and therapeutic implications. Med Clin (Barc) 2017;148:218-224. https://doi.org/10.1016/j.medcli.2016.10.047.
Espinoza-Herrera Y, Restrepo-Gutiérrez J. Hemocromatosis hereditaria. Texto de Medicina Interna. 2da ed. Asociación Colombiana de Medicina Interna. Departamento de Medicina Interna. Universidad del Cauca: Ed. Gamar Editores; 2021. p. 3935-3940.
Mesa-Latorre JM, García-Díaz JD, Corps-Fernández D, Valbuena-Parra AR. Trastornos del metabolismo del hierro y del cobre. Hemocromatosis y enfermedad de Wilson. Medicine 2016;12:1094-1106. https://doi.org/https://doi.org/10.1016/j.med.2016.09.027.
Cullis JO, Fitzsimons EJ, Griffiths WJ, Tsochatzis E, Thomas DW. Investigation and management of a raised serum ferritin. Br J Haematol 2018;181:331-340. https://doi.org/10.1111/bjh.15166.
Carrillo-Esper R, Peña-Pérez C, Zepeda-Mendoza A, Mesa-Márquez J, Neri-Maldonado R, Mesa-Ayala C. Ferritina y síndrome hiperferritinémico. Su impacto en el enfermo grave; conceptos actuales. Rev Asoc Mex Med Crit y Ter In 2015;29:157-166.
Altés A, Pérez-Lucena MJ, Bruguera M. Sistemática diagnóstica en la hiperferritinemia. Med Clin 2014;142:412-417. https://doi.org/10.1016/j.medcli.2013.06.010.
Beaton MD, Adams PC. Treatment of hyperferritinemia. Ann Hepatol 2012;11:294-300.
Bardou-Jacquet E, Hamdi-Roze H, Paisant A, Decraecker M, Bourlière M, Ganne-Carrié N, et al. Non-invasive diagnosis and follow-up of hyperferritinaemia. Clin Res Hepatol Gastroenterol 2022;46:101762. https://doi.org/10.1016/j.clinre.2021.101762.
Campuzano-Maya G. Estudio del paciente con hiperferritinemia. Med Lab 2017;23:411-442. https://doi.org/10.36384/01232576.19.
Adams PC, Reboussin DM, Barton JC, McLaren CE, Eckfeldt JH, McLaren GD, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005;352:1769-1778. https://doi.org/10.1056/NEJMoa041534.
Dever JB, Mallory MA, Mallory JE, Wallace D, Kowdley KV. Phenotypic characteristics and diagnoses of patients referred to an iron overload clinic. Dig Dis Sci 2010;55:803-807. https://doi.org/10.1007/s10620-009-1080-1.
Wong K, Adams PC. The diversity of liver diseases among outpatient referrals for an elevated serum ferritin. Can J Gastroenterol 2006;20:467-470. https://doi.org/10.1155/2006/357340.
Beutler E. Hemochromatosis: genetics and pathophysiology. Annu Rev Med 2006;57:331-347. https://doi.org/10.1146/annurev.med.57.121304.131310.
Ong SY, Nicoll AJ, Delatycki MB. How should hyperferritinaemia be investigated and managed? Eur J Intern Med 2016;33:21-27. https://doi.org/10.1016/j.ejim.2016.05.014.
Murillo-Godínez G. Hemocromatosis. Med Int Mex 2019;35:896-905. https://doi.org/10.24245/mim.v35i6.2693.
Bacon B, Pradyumna P, Mentzer W, Lindor K, Tirnauer J, L. K. Clinical manifestations and diagnosis of hereditary hemochromatosis. Massachusetts, USA: UpToDate; 2022. Acceso 22 de abril de 2022. Disponible en https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-hereditary-hemochromatosis.
Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology 2011;54:328-343. https://doi.org/10.1002/hep.24330.
European Association for the Study of the Liver (EASL). EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol 2010;53:3-22. https://doi.org/10.1016/j.jhep.2010.03.001.
Kowdley KV, Brown KE, Ahn J, Sundaram V. ACG Clinical Guideline: Hereditary hemochromatosis. Am J Gastroenterol 2019;114:1202-1218. https://doi.org/10.14309/ajg.0000000000000315.
Murphree CR, Nguyen NN, Raghunathan V, Olson SR, DeLoughery T, Shatzel JJ. Diagnosis and management of hereditary haemochromatosis. Vox Sang 2020;115:255-262. https://doi.org/10.1111/vox.12896.
Santacoloma M, Gutiérrez-Londoño H, Limas LM. Hemocromatosis hereditaria: Presentación de 2 casos y revisión de la literatura. Rev Colomb Gastroenterol 2010;25:198-203.
Powell LW, Seckington RC, Deugnier Y. Haemochromatosis. Lancet 2016;388:706-716. https://doi.org/10.1016/s0140-6736(15)01315-x.
Deugnier Y, Brissot P, Loréal O. Iron and the liver: Update 2008. J Hepatol 2008;48:S113. https://doi.org/10.1016/j.jhep.2008.01.014.
Adams PC, Barton JC, Guo H, Alter D, Speechley M. Serum ferritin is a biomarker for liver mortality in the Hemochromatosis and Iron Overload Screening Study. Ann Hepatol 2015;14:348-353.
Brissot P, Pietrangelo A, Adams PC, de Graaff B, McLaren CE, Loréal O. Haemochromatosis. Nat Rev Dis Primers 2018;4:18016. https://doi.org/10.1038/nrdp.2018.16.
Sarigianni M, Liakos A, Vlachaki E, Paschos P, Athanasiadou E, Montori VM, et al. Accuracy of magnetic resonance imaging in diagnosis of liver iron overload: a systematic review and meta-analysis. Clin Gastroenterol Hepatol 2015;13:55-63.e55. https://doi.org/10.1016/j.cgh.2014.05.027.
Bacon BR, Phatak P, Means RT, Tirnauer JS. Management and prognosis of hereditary hemochromatosis. Massachusetts, USA: UpToDate; 2022. Acceso 25 de abril de 2022. Disponible en https://www.uptodate.com/contents/management-and-prognosis-of-hereditary-hemochromatosis.
Bardou-Jacquet E, Morandeau E, Anderson GJ, Ramm GA, Ramm LE, Morcet J, et al. Regression of fibrosis stage with treatment reduces long-term risk of liver cancer in patients with hemochromatosis caused by mutation in HFE. Clin Gastroenterol Hepatol 2020;18:1851-1857. https://doi.org/10.1016/j.cgh.2019.10.010.
Olynyk JK, Gan E, Tan T. Predicting iron overload in hyperferritinemia. Clin Gastroenterol Hepatol 2009;7:359-362. https://doi.org/10.1016/j.cgh.2008.11.010.
Ruefer A, Bapst C, Benz R, Bremerich J, Cantoni N, Infanti L, et al. Role of liver magnetic resonance imaging in hyperferritinaemia and the diagnosis of iron overload. Swiss Med Wkly 2017;147:w14550. https://doi.org/10.4414/smw.2017.14550.
Carvajal-Carmona LG, Soto ID, Pineda N, Ortíz-Barrientos D, Duque C, Ospina-Duque J, et al. Strong Amerind/white sex bias and a possible Sephardic contribution among the founders of a population in northwest Colombia. Am J Hum Genet 2000;67:1287-1295. https://doi.org/10.1016/s0002-9297(07)62956-5.
Avila-Gomez IC, Latorre-Sierra G, Restrepo-Gutierrez JC, Correa-Arango G, Jimenez-Del-Rio M, Velez-Pardo C. Analysis of the HFE gene (H63D and C282Y) mutations in patients with iron overload, family members and controls from Antioquia, Northwest Colombia. Clin Genet 2008;73:92-93. https://doi.org/10.1111/j.1399-0004.2007.00919.x.
Cherfane CE, Hollenbeck RD, Go J, Brown KE. Hereditary hemochromatosis: missed diagnosis or misdiagnosis? Am J Med 2013;126:1010-1015. https://doi.org/10.1016/j.amjmed.2013.07.013.
Vanegas R CM, Restrepo R C, Vargas G N, Marín C AE, Martínez S LM, Yepes D CE, et al. Caracterización de pacientes con enfermedad del hígado graso no alcohólica en un hospital de alta complejidad, Colombia 2013. Rev Colomb Gastroenterol 2014;29:342-346.
Younossi ZM, Stepanova M, Afendy M, Fang Y, Younossi Y, Mir H, et al. Changes in the prevalence of the most common causes of chronic liver diseases in the United States from 1988 to 2008. Clin Gastroenterol Hepatol 2011;9:524-530.e521. https://doi.org/10.1016/j.cgh.2011.03.020.
Sheth S, Chopra S, Lindor K, K. R. Epidemiology, clinical features, and diagnosis of nonalcoholic fatty liver disease in adults. Massachusetts, USA: UpToDate. Acceso 07 de mayo de 2022. Disponible en https://www.uptodate.com/contents/epidemiology-clinical-features-and-diagnosis-of-nonalcoholic-fatty-liver-disease-in-adults.
Moris W, Verhaegh P, Jonkers D, Deursen CV, Koek G. Hyperferritinemia in nonalcoholic fatty liver disease: Iron accumulation or inflammation? Semin Liver Dis 2019;39:476-482. https://doi.org/10.1055/s-0039-1693114.
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