Hemocromatose Online (Hemochromatosis)

Hemocromatose é um distúrbio hereditário comum do metabolismo do ferro e uma das causas mais importantes de sobrecarga de ferro. A hemocromatose hereditária (HH) é a mais comum doença autossômica em caucasianos e caracteriza-se pelo aumento da absorção intestinal de ferro, o qual resulta em acúmulo progressivo de ferro no organismo. Acomete mais o sexo masculino, na quarta e quinta décadas. A classificação da HH é realizada de acordo com a alteração genética encontrada, sendo os casos divididos em tipos 1, 2A, 2B, 3 e 4, quando a sobrecarga de ferro for associada aos genes HFE, HJV, HAMP, TFR2 e SLC40A1, respectivamente. É caracterizada por sobrecarga de ferro predominantemente no fígado, mas também noutros órgãos, causando a sua disfunção. Tem manifestações clínicas tão variadas como a cirrose hepática, a diabetes mellitus, a tonalidade bronzeada da pele, a artropatia e a disfunção do miocárdio. Sintomas articulares são manifestações frequentes na HH (cerca de 30% dos pacientes), algumas vezes sendo relatados como primeiro sintoma da doença. O rastreamento genético é recomendado para todos os parentes de primeiro grau. O tratamento dietético é importante (dieta com baixo teor de ferro), flebotomias com avaliação da ferritina sérica para determinar o sucesso da terapia, e transplante hepático para cirrose descompensada.

■ Hemocromatose hereditária: revisão de literatura

N L R Souto, P R Pubgliesi, I C R Lopes

Rev Med Minas Gerais 2016, vol 26: e1791

http://www.rmmg.org/artigo/detalhes/2072

■ Clinical and laboratory associations with persistent hyperferritinemia in 373 black hemochromatosis and iron overload screening study participants

Barton JC, Barton JC, Adams PC.

Ann Hepatol. 2017 Sep-Oct;16(5):802-811

http://www.medigraphic.com/pdfs/hepato/ah-2017/ah175q.pdf

■ A role of liver magnetic resonance imaging in hyperferritinaemia and the diagnosis of iron overload

A Ruefer, C Bapst, R Benz et al

Swiss Med Wkly 2017, vol 147: w14550

https://smw.ch/article/doi/smw.2017.14550/

■ Diabete in HFE hemochromatosis

James C. Barton, Ronald T. Acton

J Diabetes Res. 2017; 2017: 982693

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346371/

■ Juvenile hemochromatosis: HAMP mutation and severe iron overload treaded wih phlebotomies and deferasirox

M A Lescano, L C Tavares, P C J L Santos

World J Clin Cases 2017, vol 5 (10): 381-383

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5649000/

■ Autopsy relevance determing hemochromatosis: case report

Chmieliauskas S, Banionis D, Laima S e AL

Medicine (Baltimore). 2017 Dec;96(49):e8788

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5728853/

■ Ultrasound verified inflammation and structural damage in patient with hereditary haemochromatosis-related arthropathy

Dejaco C, Stadlmayr A, Duftner C et al

Arthritis Res Ther. 2017 Oct 24;19(1):243

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655822/

■ Hemochromatosis as junctional tachycardia, a rare presentation

Ghani A, Ahsan I, Gottleib C.

Clin Pract. 2017 Aug 3;7(3):979

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5543826/

■ Hypogonadotropic hypogonadism in men with hereditary hemochromatosis

El Osta R, Grandpre N, Monnin N, Hubert J, Koscinski I.

Basic Clin Androl. 2017 Jul 8;27:13

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501943/

■ Levodopa responsive parkinsonism in patients with hemochromatosis: case presentation and literature review

Girotra T, Mahajan A, Sidiropoulos C.

Case Rep Neurol Med. 2017;2017:5146723

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382304/

■ Secondary hemochromatosis due to chronic oral iron supplementation

Lands R, Isang E.

Case Rep Hematol. 2017;2017:2494167

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241449/

■ An unfortunate case of acquired hemochromatosis: a case report review of the clinical presentation, diagnosis, management, and prognostic

Tariq A, Westra K, Santo A.

Int Med Case Rep J. 2016 Dec 8;9:385-387

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5153297/

■ Key-interventions derived from three evidence based guidelines for management and follow-up of patients with HFE haemochromatosis

Vanclooster A, Wollersheim H, Vanhaecht K et al

Haemochromatosis working group.

BMC Health Serv Res. 2016 Oct 13;16(1):573.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5062877/

■ Therapeutic depletion of iron stones is not associated with a reduced hemoglobin mass in a hemochromatosis patient

Wrobel N, Pottgiesser T, Birkner P, Deibert P, Ahlgrim C.

Case Rep Gastroenterol. 2016 Aug 31;10(2):459-465

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043194/

■ Ferroportin disease: pathogenesis, diagnosis and treatment

Antonello Pietrangelo

Haematologica. 2017 Dec; 102(12): 1972–1984

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5709096/

■ Hereditary hemochromatosis: dealing with iron overload

P Quigley

Nursing 2016, vol 46 (5): 36-43

https://journals.lww.com/nursing/Fulltext/2016/05000/Hereditary_hemochromatosis__Dealing_with_iron.11.aspx

■ Quality of life utility values for hereditary haemochromatosis in Australia

Barbara de Graaff, Amanda Neil, Kristy Sanderson et al

Health Qual Life Outcomes. 2016; 14: 31

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4770680/

■ EMQN best practice quidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)

Graça Porto, Pierre Brissot, Dorine W Swinkels et al

Eur J Hum Genet. 2016 Apr; 24(4): 479–495

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929861/

■ Hemocromatosis y osteoporosis: a propósito de 4 casos.

Montaño Jaramillo, D. and Díaz Curiel, M.

Rev Osteoporos Metab Miner, Dic 2016, vol.8, no.4, p.134-137

http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1889-836X2016000400006&lng=en&nrm=iso

■ Diagnóstico Prénatal de Hemocromatose Neonatal: Será possível?

Lopes, Helena Isabel et al.

Nascer e Crescer, Jun 2015, vol.24, no.2, p.88-90

http://www.scielo.mec.pt/scielo.php?script=sci_arttext&pid=S0872-07542015000300008&lng=pt&nrm=iso

■ Examining the clinical use of hemochromatosis genetic testing

Matthew B Lanktree, Bruce B Lanktree, Guillaume Paré et al

Can J Gastroenterol Hepatol. 2015 Jan-Feb; 29(1): 41–45

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4334066/

■ Evaluación del estado en la reserva neonatal de hierro y las mutaciones del gen HFE

Coeto Barona, Georgina C. et al.

Bol. Med. Hosp. Infant. Mex., Jun 2014, vol.71, no.3, p.148-153

http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S1665-11462014000300004&lng=en&nrm=iso

■ Erythrocytapheresis compared wih whole blood phlebotomy for the treatment of hereditary haemochromatosis

Tatjana Sundic, Tor Hervig, Signe Hannisdal e al

Blood Transfus. 2014 Jan; 12(Suppl 1): s84–s89

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3934269/

■ Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

Beben Benyamin, Tonu Esko, Janina S Ried, et al

Nat Commun. 2014; 5: 4926

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215164/

■ Hemocromatose simulando artrite reumatoide: relato de caso.

Barbosa, Fabíola Brasil et al.

Rev. Bras. Reumatol., Fev 2014, vol.54, no.1, p.62-64

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0482-50042014000100062&lng=en&nrm=iso

■ Does haemochromatosis predispose to coelica disease? A study of 29,096 coelica disease patients

Jonas F Ludvigsson, Joseph A Murray, Paul C Adams, Maria Elmberg

Scand J Gastroenterol. 2013 Feb; 48(2): 176–182

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3576703/

■ How we manage patients with hereditary haemochromatosis

E Rombout-Sestrienkova, M G J van Kraaij, G H Koek

Bristish Journal of Haematology 2016, vol 175 (5): 759-770

http://onlinelibrary.wiley.com/doi/10.1111/bjh.14376/full

■ Molecular diagnostic and pathogenesis of hereditary hemochromatosis

Paulo C. J. L. Santos, Jose E. Krieger, Alexandre C. Pereira

Int J Mol Sci. 2012; 13(2): 1497–1511

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3291973/

■ Mutations in HFE and TFR2 genes in a Spanish patient with hemochromatosis

del-Castillo-Rueda, Alejandro et al.

Rev. esp. enferm. dig., July 2011, vol.103, no.7, p.379-38

http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1130-01082011000700010&lng=en&nrm=iso

■ How I treat hemochromatosis

P C Adams, J C Barton

Blood 2010, vol 116: 317-325

http://www.bloodjournal.org/content/116/3/317.full

■ Nueva terapia com inmunoglobulinas en um casos de hemocromatosis neonatal

Cruceyra Betriu, Míreia et al

Rev. chil. obstet. ginecol., 2010, vol.75, no.3, p.204-206

https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0717-75262010000300011&lng=en&nrm=iso

■ Deficiencia y sobrecarga de hierro: implicaciones en el estado oxidativo y la salud cardiovascular

Toxqui, L. et al.

Nutr. Hosp., Jun 2010, vol.25, no.3, p.350-365

http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S0212-16112010000300003&lng=en&nrm=iso

■ Alterações moleculares associadas à hemocromatose hereditária

Santos, Paulo C. J. L. et al.

Rev. Bras. Hematol. Hemoter., 2009, vol.31, no.3, p.192-202

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842009000300016&lng=pt&nrm=iso

■ Revisão das manifestações da hemocromatose A propósito de um caso clínico com 25 anos de evolução

Pinho, R. et al.

J Port Gastrenterol., Out 2008, vol.15, no.4, p.161-167

http://www.scielo.mec.pt/scielo.php?script=sci_arttext&pid=S0872-81782008000400004&lng=pt&nrm=iso

■ Prevalence of C282Y and H63D mutations in the HFE gene of Brazilian individuals with clinical suspicion of hereditary hemochromatosis.

Ferreira, Alessandro C. S. et al.

Rev. Bras. Hematol. Hemoter., Oct 2008, vol.30, no.5, p.379-383

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842008000500010&lng=pt&nrm=iso

■ Diabetes como manifestación inicial de Hemocromatosis Hereditaria

Franquelo Morales, Pablo, González Martínez, Félix and Alramadan Alramadan, Mubarak

Rev Clin Med Fam, Feb 2008, vol.2, no.3, p.138-139

http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1699-695X2008000100011&lng=en&nrm=iso

■ Aumento de ferro, hemocromatose hereditária e defeitos no gene HFE: o que conhecemos na população brasileira?

Bonini-Domingos, Claudia R.

Rev. Bras. Hematol. Hemoter., Dez 2007, vol.29, no.4, p.341-342

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-84842007000400003&lng=pt&nrm=iso

■ Iron storage disease: facts, fiction, and progress

Ernest Beutler

Blood Cells Mol Dis. 2007; 39(2): 140–147

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2030637/

■ The myths and realities of hemochromatosis

Melanie D Beaton, Paul C Adams

Can J Gastroenterol. 2007 Feb; 21(2): 101–104.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2657669/

■ Analysis of HFE gene mutations and HLA-A alleles in Brazilian patients with iron overload

Cançado, Rodolfo Delfini et al.

Sao Paulo Med. J., 2006, vol.124, no.2, p.55-60

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802006000200002&lng=pt&nrm=iso&tlng=en

■ Cirrose hepática e hemocromatose neonatal secundária associadas à tirosinemia tipo 1: relato de um caso e diagnóstico diferencial com hemocromatose primária hereditária

Martins, Ana Paula Camargo et al.