A fisiopatologia da Hemocromatose Hereditária e seu impacto na cavidade oral
uma revisão integrativa
DOI:
https://doi.org/10.35699/2178-1990.2025.58825Palavras-chave:
hemocromatose, proteína da hemocromatose, manifestações bucaisResumo
Introdução: a Hemocromatose Hereditária (HH) é uma doença autossômica recessiva do gene HFE, caracterizada pelo aumento da absorção intestinal de ferro, levando a sua deposição lenta em vários órgãos, mais especificamente nos tecidos moles. Objetivo: o objetivo deste trabalho foi reunir e analisar as evidências científicas sobre a Hemocromatose Hereditária.
Metodologia: utilizando-se a base de dados PUBMED e o portal de periódicos CAPES, discutiu-se o metabolismo do ferro, epidemiologia, diagnóstico, terapêutica, manifestações clínicas sistêmicas e bucais dessa doença.
Resultados: essas manifestações ocorrem principalmente a partir dos 40 anos, depois do excesso de ferro se acumular progressivamente em diferentes órgãos, particularmente no fígado, coração e pâncreas. Manifestações bucais ocorrem através de lesões hiperpigmentadas e alterações no fluxo salivar, que podem ser detectadas pelo Cirurgião-Dentista.
Conclusão: a HH é uma condição genética muito comum e seu diagnóstico tardio pode provocar danos irreversíveis a órgãos e sistemas, inclusive na cavidade bucal, sendo importante que o Cirurgião-Dentista esteja atento às suas manifestações clínicas, de forma a contribuir para seu diagnóstico que, muitas vezes, só é estabelecido após o surgimento de complicações secundárias da doença.
Referências
Porto G, Brissot P, Swinkels DW, Zoller H, Kamarainen O, Patton S, et al. EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). Eur J Hum Genet. 2016;24(4):479-95.
Radford-Smith DE, Powell EE, Powell LW. Haemochromatosis: a clinical update for the practising physician. Intern Med J. 2018;48(5):509-16.
Machado CD, Dinis-Oliveira RJ. Clinical and forensic signs resulting from exposure to heavy metals and other chemical elements of the periodic table. J Clin Med. 2023;12(7):2591.
Li D, Li J, Zhang H, Zhu Q, Wang T, Zhao W, et al. Hereditary hemochromatosis caused by a C282Y/H63D mutation in the HFE gene: a case report. Heliyon. 2024;10(7):e28046.
Boyer E, Le Gall-David S, Martin B, Fong SB, Loréal O, Deugnier Y, et al. Increased transferrin saturation is associated with subgingival microbiota dysbiosis and severe periodontitis in genetic haemochromatosis. Sci Rep. 2018;8:15532.
Pilling LC, Tamosauskaite J, Jones G, Wood AR, Jones L, Kuo C, et al. Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank. BMJ. 2019;364:k5222.
Powell LW, Seckington RC, Deugnier Y. Hemocromatose. Lancet. 2016;388:706-16.
Brissot P, Pietrangelo A, Adams PC, Graff B, McLaren CE, Loréal. Haemochromatosis. Nat Rev Dis Primers. 2018;4:18016.
Mikaelsdottir M, Vidarsson B, Runarsson G, Bjarnadottir U, Onundarson PT, Sigurjonsson OE, et al. A comparison of platelet quality between platelets from healthy donors and hereditary hemochromatosis donors over seven-day storage. Transfusion. 2021;61(1):202-11.
Yun S, Vincelette ND. Update on iron metabolism and the molecular perspective of common genetic and acquired hemochromatosis. Crit Rev Oncol Hematol. 2015;95(1):12-25.
Makker J, Hanif A, Bajantri B, Chilimuri S. Dysmetabolic hyperferritinemia: all iron overload is not hemochromatosis. Case Rep Gastroenterol. 2015;9(1):7-14.
Schlosser BJ, Pirigyi M, Mirowski GW. Oral Oral manifestations of hematologic and nutritional diseases. Otolaryngol Clin North Am. 2011;44(1):183-203.
Allen KJ, Gurrin LC, Constantine CC, Osborne NJ, Delatycky MB, Nicoll AJ, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med. 2008;358(3):221-30.
Oliveira F, Rocha S, Fernandes R. Iron metabolism: from health to disease. J Clin Lab Anal. 2014;28(3):210-8.
Ryan E, Ryan JD, Russell JM, Coughlan B. Correlates of hepcidin and NTBI according to HFE status in patients referred to a liver centre. Acta Haematol. 2015;133(2):155-61.
Aymone WC, Valiati V, Resem MG, Peres W. Hemocromatose hereditária. JBM. 2013;101(6):27-33.
Brissot P, Cavey T, Ropert M, Guggenbuhl P, Loréal O. Genetic hemochromatosis: pathophysiology, diagnostic and therapeutic management. Presse Med. 2017;46(12 Pt 2):e288-95.
Pietrangelo A. Hereditary hemochromatosis: a new look at an old disease. N Engl J Med. 2004;350:2383-97.
Adams PC, Jeffrey G, Ryan J. Haemochromatosis. Lancet. 2023;401(10390):1811-21.
Crownover BK, Covey CJ. Hereditary hemochromatosis. Am Fam Physician. 2013;87(3):183-90.
Chmieliauskas S, Banionis D, Laima S, Andriuskeviciute G, Mazeikiene S, Stasiuniene J, et al. Autopsy relevance determining hemochromatosis: case report. Medicine (Baltimore). 2017;96(49):e8788.
Sánchez-Pablo M, González-García V, Castillo-Rueda A.. Study of total stimulated saliva flow and hyperpigmentation in the oral mucosa of patients diagnosed with hereditary hemochromatosis. Series of 25 cases. Med Oral Patol Oral Cir Bucal. 2012;17(1):e45-9.
Van Aerts RM, van Deursen CT, Koek GH. Proton pump inhibitors reduce the frequency of phlebotomy in patients with hereditary hemochromatosis. Clin Gastroenterol Hepatol. 2016;14(1):147–52.
Fonseca PF, Cançado RD, Naoum FA, Dinardo CL, Fonseca GH, Gualandro SF, et al. Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis. BMC Med Genet. 2018;19:3.
Brown AS, Gwinn M, Cogswell ME, Khoury MJ. Hemochromatosis-associated morbidity in the United States: an analysis of the National Hospital Discharge Survey, 1979–1997. Genet Med. 2001;3(2):109–11.
Das SK, Zhabyeyev P, Basu R, Patel VB, Dyck JR, Kassiri Z, et al. Advanced iron-overload cardiomyopathy in a genetic murine model is rescued by resveratrol therapy. Biosci Rep. 2018;38(1):BSR20171302.
Mitchell BA, Chi JA, Driskill EK, Labaran LA, Wang JF, Shen FH, et al. A matched-cohort analysis of outcomes in patients with hereditary hemochromatosis after anterior cervical discectomy and fusion. World Neurosurg. 2024;184:e25-31.
Aronow WS. Management of cardiac hemochromatosis. Arch Med Sci. 2018;14(3):560-8.
Kawabata H. The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis. Int J Hematol. 2018;107:31-43.
Vanclooster A, Cassiman D, Van Steenbergen W, Swinkels DW, Janssen MC, Drenth JP, et al. The quality of hereditary haemochromatosis guidelines: a comparative analysis. Clin Res Hepatol Gastroenterol. 2015;39(2):205-14.
Brissot P, Loréal O. Hemochromatoses. J Hepatol. 2021;75(3):723-4.
Katsarou M, Papasavva M, Latsi R, Drakoulis N. Chapter Ten - Hemochromatosis: hereditary hemochromatosis and HFE gene. Vitam Horm. 2019;110:201-22.
Frantzis TG, Sheridan PJ, Reeve CM, Young LL. Oral manifestations of hemochromatosis: report of a case. Oral Surg Oral Med Oral Pathol. 1972;33(2):186-90.
Rydosz J. Pigmentary changes in oral mucosa. Czas Stomatol. 1975;28:423-7.
Takeda Y, Ohya T. Sicca symptom in a patient with hemochromatosis: minor salivary gland biopsy for differential diagnosis. Int J Oral Maxillofac Surg. 1987;16(6):745-8.
Saleh J, Figueiredo MA, Cherubini K, Salum FG. Salivary hypofunction: an update on aetiology, diagnosis and therapeutics. Arch Oral Biol. 2015;60(2):242-55.
Muckenthaler MU, Rivella S, Hentze MW, Galy B. A red carpet for iron metabolism. Cell. 2017;168(3):344-61.
Pantopoulos K. Inherited disorders of iron overload. Front Nutr. 2018;5:103.
Ulvik RJ. The liver in haemochromatosis. J Trace Elem Med Biol. 2015;31:219-24.
