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2019 | 1 | 2 | 72-76
Article title

Endocrine disorders in patients with hereditary hemochromatosis

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Abstracts
EN
Hereditary hemochromatosis (HH) is a rare genetic disorder, developing secondary to the accumulation of iron in tissues, which may lead to multiple organ failure. If untreated, it may result in liver cirrhosis or cardiomyopathy. The damage to the pancreas and the anterior pituitary, on the other hand, leads to a decreased production and secretion of hormones that are essential to life. Common symptoms of HH, that are distressing for patients, include joint pain, particularly involving hands and wrists, as well as the chronic fatigue syndrome. Iron overload affects the skeletal system, leading to osteoporosis. The pathological accumulation of iron in the anterior pituitary impairs the gonadotropin synthesis, resulting in reduced serum levels of testosterone in men and estrogens in women. This, however, contributes to lower bone mass. In vivo tests have also revealed that abnormal iron accumulation is related to an increased activity and number of osteoclasts, as well as the influence on the differentiation and activity of osteoblast-lineage cells. Based on a systematic review of literature, hereditary hemochromatosis (HH) will be presented as a chronic disease, affecting most of the endocrine glands.
Year
Volume
1
Issue
2
Pages
72-76
Physical description
Dates
published
2019-02-05
received
2018-08-13
accepted
2018-11-21
References
  • Sikorska K, Bielawski KP, Romanowski T, Stalke P. Hereditary hemochromatosis: the most frequent inherited human disease. Postepy Hig Med Dosw (Online). 2006;60:667-76.
  • Aranda N, Viteri FE, Montserrat C, Arija V. Effects of C282Y, H63D, and S65C HFE gene mutations, diet, and life-style factors on iron status in a general Mediterranean population from Tarragona, Spain. Ann Hematol. 2010;89(8):767-73.
  • Niederau C, Fischer R, Purschel A, Stremmel W, Haussinger D, Strohmeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology. 1996;110(4):1107-19.
  • Niederau C, Fischer R, Sonnenberg A, Stremmel W, Trampisch HJ, Strohmeyer G. Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. N Engl J Med. 1985;313(20):1256-62.
  • Beddy P, McCann J, Ahern M, Norris S, Keogan M. MRI assessment of changes in liver iron deposition post-venesection. Eur J Radiol. 2011;80(2):204-7.
  • Niederau C, Stremmel W, Strohmeyer GWW. 7 Clinical spectrum and management of haemochromatosis. Baillieres Clin Haematol. 1994;7(4):881-901.
  • Rozwadowska K, Daniłowicz‐Szymanowicz L, Fijałkowski M, Sikorska K, Gałąska R, Kozłowski D, et al. Can two‐dimensional speckle tracking echocardiography be useful for left ventricular assessment in the early stages of hereditary haemochromatosis? Echocardiography. 2018;35(11):1772-81.
  • Lee PL, Beutler E, Rao S V, Barton JC. Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. Blood. 2004;103(12):4669-71.
  • Ravasi G, Rausa M, Pelucchi S, Arosio C, Greni F, Mariani R, et al. Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype. Am J Hematol. 2015;90(12):E226-7.
  • Charmandari E, Nicolaides NC, Chrousos GP. Adrenal insufficiency. Lancet. 2014;383(9935):2152-67.
  • Huang KE, Mittelman SD, Coates TD, Geffner ME, Wood JC. A significant proportion of thalassemia major patients have adrenal insufficiency detectable on provocative testing. J Pediatr Hematol Oncol. 2015;37(1):54-9.
  • Varkonyi J, Kaltwasser JP, Seidl C, Kollai G, Andrikovics H, Tordai A. Correspondence: A case of non-HFE Juvenile Haemochromatosis presenting with adrenocortical insufficiency. Br J Haematol. 2000;109(1):252-3.
  • Banaszkiewicz K, Sikorska K, Dorniak K, Lewczuk-Myślicka A, Sworczak K, Szurowska E, et al. Primary adrenal insufficiency and hemochromatosis - cause and effect relationship or a coincidence? Ann Endocrinol (Paris). 2018 Oct;[Epub ahead of print].
  • Uitz PM, Hartleb S, Schaefer S, Al-Fakhri N, Kann PH. Pituitary function in patients with hereditary haemochromatosis. Horm Metab Res. 2013;45(1):54-61.
  • McNeil LW, McKee Jr LC, Lorber D, Rabin D. The endocrine manifestations of hemochromatosis. Am J Med Sci. 1983;285(3):7-13.
  • Edwards CQ, Kelly TM, Ellwein G, Kushner JP. Thyroid disease in hemochromatosis: increased incidence in homozygous men. Arch Intern Med. 1983;143(10):1890-3.
  • Murphy MS, Walsh CH. Thyroid function in haemochromatosis. Ir J Med Sci. 2004;173(1):27-9.
  • Valenti L, Varenna M, Fracanzani AL, Rossi V, Fargion S, Sinigaglia L. Association between iron overload and osteoporosis in patients with hereditary hemochromatosis. Osteoporos Int. 2009;20(4):549-55.
  • Guggenbuhl P, Deugnier Y, Boisdet JF, Rolland Y, Perdriger A, Pawlotsky Y, et al. Bone mineral density in men with genetic hemochromatosis and HFE gene mutation. Osteoporos Int. 2005;16(12):1809-14.
  • Messer JG, Kilbarger AK, Erikson KM, Kipp DE. Iron overload alters iron-regulatory genes and proteins, down-regulates osteoblastic phenotype, and is associated with apoptosis in fetal rat calvaria cultures. Bone. 2009;45(5):972-9.
  • Yamasaki K, Hagiwara H. Excess iron inhibits osteoblast metabolism. Toxicol Lett. 2009;191(2–3):211-5.
  • Doyard M, Chappard D, Leroyer P, Roth M-P, Loréal O, Guggenbuhl P. Decreased bone formation explains osteoporosis in a genetic mouse model of hemochromatosiss. PLoS One. 2016;11(2):e0148292.
  • O’Sullivan EP, McDermott JH, Murphy MS, Sen S, Walsh CH. Declining prevalence of diabetes mellitus in hereditary haemochromatosis - the result of earlier diagnosis. Diabetes Res Clin Pract. 2008;81(3):316-20.
  • Dubois-Laforgue D, Larger E, Timsit J. Is diabetes mellitus a sufficient condition to suspect hemochromatosis? Diabetes Metab. 2000;26(4):318-21.
  • Acton RT, Barton JC, Passmore L V, Adams PC, Speechley MR, Dawkins FW, et al. Relationships of serum ferritin, transferrin saturation, and HFE mutations and self-reported diabetes in the Hemochromatosis and Iron Overload Screening (HEIRS) study. Diabetes Care. 2006;29(9):2084-9.
  • Moczulski DK, Grzeszczak W, Gawlik B. Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy. Diabetes Care. 2001;24(7):1187-91.
  • Davis TME, Beilby J, Davis WA, Olynyk JK, Jeffrey GP, Rossi E, et al. Prevalence, Characteristics, and Prognostic Significance of HFE Gene Mutations in Type 2 Diabetes: The Fremantle Diabetes Study. Diabetes Care. 2008 Sep 1;31(9):1795-801.
  • Rong Y, Bao W, Rong S, Fang M, Wang D, Yao P, et al. Hemochromatosis gene (HFE) polymorphisms and risk of type 2 diabetes mellitus: a meta-analysis. Am J Epidemiol. 2012;176(6):461-72.
Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.doi-10_31373_ejtcm_99913
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