Endocrine complications of genetic hemochromatosis;Les complications endocriniennes de l'hemochromatose genetique

Acta Clinica Belgica

Volumn 54, Issue 6, 1999, Pages 334-345

  Paris, I ^a   Hermans, M ^a   Buysschaert, M ^a  

^a CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; COHORT ANALYSIS; DISEASE SEVERITY; ENDOCRINE DISEASE; FEMALE; FOLLOW UP; GENETIC DISORDER; HEMOCHROMATOSIS; HUMAN; HYPOGONADISM; MAJOR CLINICAL STUDY; MALE; PREVALENCE; THYROID DISEASE;

ADULT; ANALYSIS OF VARIANCE; COHORT STUDIES; DIABETES MELLITUS; ENDOCRINE SYSTEM DISEASES; FEMALE; FERRITINS; FOLLOW-UP STUDIES; GLUCOSE INTOLERANCE; GONADOTROPIN-RELEASING HORMONE; HEMOCHROMATOSIS; HUMANS; HYPOGONADISM; IRON; LIVER CIRRHOSIS; MALE; MIDDLE AGED; PITUITARY DISEASES; PREVALENCE; RETROSPECTIVE STUDIES;

EID: 0033383337     PISSN: 00015512     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (101)

1. Niederau C, Strohmeyer G, Stremmel W. Epidemiology, clinical spectrum and prognosis of hemochromatosis. Adv Exp Med Biol. 1994; 356: 293-302.
2. Deugnier Y, Moirand T, Brissot P. Hémochromatose génétique. Médecine Thérapeutique. 1995; 1: 587-96.
3. Simon M, Bourel M, Genetet B, Fauchet R. Idiopathic hemochromatosis demonstration of recessive inheritance and early detection by HLA-typing. N Engl J Med. 1977; 297: 1017-21.
4. Simon M, Bourel M, Fauchet R, Hespel JP, Genetet B. Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis. Gut. 1976; 17: 332-7.
5. Feder, J N, Gnirke A, Thomas W et al. A novel MHC class-I like gene is mutated in patients with hereditary hacmochromatosis. Nat Genet. 1996; 13: 399-408.
6. Jouanolle AM, Fergelot P, Gandon G, Yaouanq J, Le Gall JY, David V. A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations. Hum Genet. 1997; 10: 544-7.
7. Carella M, Dambrosia L, Totaro A et al. Mutation analysis of the HLA-H gene in italian hemochromatosis patients. Am J Hum Genet. 1997; 60: 828.
8. Dahan K, Horsmans Y, Lambot V, Geubel A, Verellen-Dumoulin Ch. Correlations betwen histological and quantitave iron assays and direct HFE mutation analysis in genetic hemochromatosis. Acta Gastroenterologica Belgica. 1998; 61(1): C3.
9. Zhou XY, Tamatsu S, Fleming RE et al. HFE gene knockout produces mouse model of hereditary haemochromatosis. Proc Natl Acad Sci USA. 1998; 95: 2492-7.
10. Beutler E, West C, Gelbart T. HLA-H and associated protein in patients with hemochromatosis. Molec Med. 1997; 3: 4397-4402.
11. Parkkila S, Waheed A, Britton RS et al. Immunochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract. Proc Natl Acad Sci USA. 1997; 94: 2534-9.
12. Feder JN, David MP, Irrinki A. et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affininity for ligand binding. Proc Natl Acad Sci USA. 1998; 95: 1472-7.
13. De Sousa M, Reimao R, Lacerda R, Hugo P Kaufmann SHE, Porto G. Iron overload in 2 microglobulin mice. Immunol Lett. 1994; 60: 828-32.
14. Adams PC. Prevalence of abnormal iron studies in heterozygotes for hereditary hemochromatosis: an analysis of 255 heterozygotes. Am J Hematol. 1994; 45: 146-9.
15. Bulaj ZJ, Griffen LM, Jorde LB, Edwards CQ, Kushner JP. Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. N Engl J Med. 1996; 335(24): 1799-1805.
16. Paris I, Dahan K, van Ypersele M, Rahier J, Michaux L, Buysschaert M. Existe-t-il un lien entre hémochromatose secondaire et génétique? A propos de deux cas. Acta Clin Belg. 1999; 54(1): 26-9.
17. Buysschaert M. L'hémochromatose idiopathique. Louvain Méd. 1984; 108: 199-208.
18. Boitard C, Valla D. Hémochromatose primitive: un gène inattendu? Médecine Thérapeutique. 1996; 2(9): 723-6.
19. Edwards CQ, Kushner JP. Screening for hemochromatosis. N Engl J Med. 1993; 328: 1616-20.
20. Ferrant A, Beckers C. Intérêt clinique de la ferritine sérique. Louvain Med. 1983; 102: 153-8.
21. Poirier JY. Elévation du taux de la ferritine sérique dans le diabète insulino-traité et influence de l'équilibre glycémique. Rev Franç Endocrinol Clin. 1996; 37(3): 223-6.
22. Basset ML, Halliday JW, Powell LW. Value of hepatic iron measurements in early hemochromatosis and determination of the critical iron level associated with fibrosis. Hepatology. 1986; 6: 24-9.
23. Deugnier Y, Halliday JW, Summers KM et al. Differentiation between heterozygotes and homozygotes in genetic hemochromatosis by means of a morphological iron index: A study of 192 cases. Hepatology. 1993; 17: 30-4.
24. Paris I, Hermans MP, Haufroid V, Jamart J, Selvais PL, Collienne C, Buysschaert M. Mesure du fer intrahépatique chez des malades hémochromatosiques diabétiques et non diabétiques. Diabetes & Metabolism. 1998; 24(Suppl 1): 067.
25. Stark DD, Moseley ME, Bacon BR, et al: Magnetic resonance imaging and spectroscopy of hepatic iron overload. Radiology. 1985; 154: 137-42.
26. Buysschaert M, Paris I, Selvais PL, Hermans MP. Clinical aspects of diabetes secondary to idiopathic haemochromatosis in french-speaking Belgium: Diabetes & Metabolism. 1997; 23: 308-13.
27. National Diabetes Data Group. Classification and diagnosis of diabetes mellitus and other categories of glucose intolerance. Diabetes. 1983; 24: 100-6.
28. Hermans MP, Paris I, Selvais PL, Buysschaert M. Les complications endocriniennes autres que le diabète dans l'hémochromatose idiopathique. Rev Franç Endocrinol Clin. 1997; 38: 535-44.
29. Adams P, Deugnier Y, Moirand R, Brissot P. The relationship between iron overload, clinical sypmtoms and age in 410 patients with genetic hemochromatosis. Hepatology. 1997; 25: 162-6.
30. Adams PC, Kertesz A, Valberg L. Clinical presentation of hemochromatosis: a changing scene. Am J Med. 1991; 90: 445-9.
31. Milman N. Hereditary haemochromatosis in Denmark 1950-1985. Clinical, biochemical and histological features in 179 patients and 13 preclinical cases. Dan Med Bull. 1991; 38: 385-93.
32. Balan V, Baldus W, Fairbanks V, Michels V, Burritt M, Klee G. Sreening for hemochromatosis: a cost-effectiveness study based on 12258 patients. Gastroenterology. 1994; 107: 453-5.
33. Baer DM, James MD, Simons JL, Staples RL, Rumore Gj, Morton CJ.. Hemochromatosis screening in asymptomatic ambulatory men 30 years and older. Am J Med. 1995; 98: 464-8.
34. Bacon BR, Sadiq SA. Hereditary hemochromatosis: presentation and diagnosis in the 1990s. Am J Gastroenterol. 1997; 92(5): 784-9.
35. Yaouanq J, Poirier JY, Maugendre D, Brissot P, Allanic H. Genetic hemochromatosis and diabetes: a study in 474 hemochromatosic patients. Diabetologia. 1993; 33(suppl): A186.
36. Niederau C, Fisher R, Sonnenberg A, Stremmel W, Trampish H, Strohmeyer G. Survival and causes of death in cirrhotic and in non cirrhotic patients with primary hemochromatosis. N Engl J Med. 1985; 313: 1256-62.
37. Czink E, Tamas G. Screening for idiopathic hemochromatosis among diabetic patients. Diabetes Care. 1987; 14: 929.
38. Phelps G, Chapman I, Hall P, Braund W, Mackinnon M.: Prevalence of genetic haemochromatosis among diabetic patients. Lancet. 1989; 2: 233-4.
39. George D, Evans R, Crofton R, Gunn I. Testing for haemochromatosis in the diabetic clinic. Ann Clin Biochem. 1995; 32: 521-6.
40. Conte D, Manachino D, Colli A et al. Prevalence of genetic hemochromatosis in a cohort of italian patients with diabetes mellitus. Ann Intern Med. 1998; 128: 370-3.
41. O'Brien T O, Barrett B, Murray DM, Dinneen S, O'Sullivan DJ: Usefulness of biochemical screening of diabetic patients for hemochromatosis. Diabetes Care. 1990; 13(5): 532-4.
42. Singh BM, Grunewald RA, Press M, Muller BR, Wisw PH. Prevalence of haemochromatosis amongst patients with diabetes mellitus. Diabetic Med. 1992; 9: 730-1.
43. Braun J, Donner H, Plock K, Rau H, Usadel KH, Badenhoop K. Hereditary haemochromatosis mutations (HFE) in patients with type II diabetes mellitus. Diabetologia. 1998; 41: 983-4.
44. Rahier J, Loozen S, Goebbels RM, Abrahem M. The haemochromatosic human pancreas: a quantitative immunohistochemical and ultrastructural study. Diabetologia. 1987; 30: 5-12.
45. Vialettes B, Di Campo-Rougerie C, Lassman V, Vague P. Comparaison des divers types d'anticorps anti-îlots dans le diabète en fonction de la cause et de la durée d'évolution. Presse Med. 1983; 12: 2303-6.
46. Awai M, Narazaki M, Yamanoi Y, Seno S. Induction of diabetes in animals by parenteral administration of ferric nitrilotriacetate. Am J Path. 1979; 95: 663-74.
47. Shiragusa N, Hayashi K, Awai M. Pancreatic islets after repeated injections of Fe3+-NTA. An ultrastructural study of diabetic rats. Acta Pathol Jpn. 1989; 39: 154-68.
48. Costin G, Kogut MD, Hyman C, Ortega JA. Carbohydrate metabolism and pancreatic islet function in thalassemia major. Diabetes. 1977; 26: 230-40.
49. Schafer A, Cheron R, Dluhy R et al. Clinical consequences of acquired transfusional iron overload in adults. N Engl J Med. 1981; 304: 319-29.
50. Brittenham GM, Griffith PM, Nienhuis AW et al. Efficacy of desferroxamine in preventing complications of iron overload inpatients with thalassemia major. N Engl J Med. 1994; 331: 567-73.
51. Tuomainen TP, Nyyssönen K, Salonen R, Tervahauta A, Korpela H, Lakka T. Body iron stores are associated with serum insulin and blood glucose concentrations: population study in 1013 eastern Finnish men. Diabetes Care. 1997; 20: 426-8.
52. Salonen JK, Tuomainen TP, Nyyssönen K, Lakka HM, Punnonen K. Relation between iron stores and non-insulin dependent diabetes in men: case-control study. Br Med J. 1998; 317: 727.
53. Niederau C, Berger M Stremmel W et al. Hyperinsulinemia in non cirrhotic haemochromatosis: impaired hepatic insulin degradation? Diabetologia. 1984; 26: 441-4.
54. Kruszynska Y, Harry D Bergman R. McIntyre N. Insulin sensitivity, insulin secretion and glucose effectiveness in diabetic and non diabetic cirrhotic patients. Diabetologia. 1993; 36: 121-8.
55. Petrides A, Vogt C, Schulze-Berge D, Mathews D, Strohmeyer G. Pathogenesis of glucose intolerance and diabetes mellitus in cirrhosis. Hepatology. 1994; 19: 616-27.
56. Buysschaert M: Autres Diabètes. In: Diabétologie clinique, 37-44, Louvain-la-Neuve, Paris, De Boeck Université, 1998.
57. Dmochowski K, Finegood D, Framcombe W, Tyler B, Zinnan B. Factors determining glucose tolerance in patients with thalassemia major. J Clin Endocrinol Metab. 1993; 77: 478-83.
58. Yaouanq J. Diabetes and haemochromatosis: current concepts, management and prevention. Diabète et Métabolisme. 1995; 21: 319-29.
59. Yaouanq J, Maugendre D, Jouanolle AM, Poirier JY, Allanic H. Hémochromatose, diabète et mutations du gène HFE. Diabetes & Metabolism. 1998; 24 (Suppl 1): 041.
60. Adams P, Speechley M, Kertesz A. Long-term survival analysis in hereditary hemochromatosis. Gastroenterology. 1991; 1041: 368-72.
61. Niederau C, Fischer R, Püschel A, Stremmel W, Häussinger D, Strohmeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology. 1996; 110: 1107-19.
62. Griffith JD, Dymock IW, Davies E, Hill D, Williams R. Occurrence and prevalence of diabetic retinopathy in hemochromatosis. Diabetes. 1971; 20: 766-70.
63. Paris I, Hermans M, Buysschaert M. Glycemic control in type 1 diabetes: a cross-sectional study in 1200 Belgian patients (Letter). Diabetes Care. 1998; 21: 2200-1.
64. The Diabetes Control and Complications Trial Research Group. The effect of intensive treatment of diabetes on the development and progression of long-term complications in insulin-dependent diabetes mellitus. N Engl J Med. 1993; 329: 977-86.
65. UK Prospective Diabetes Study (UKPDS) Group. Intensive blood-glucose control with sulfonylureas or insulin compared with conventional treatment and risk of complications in patients with type 2 diabetes (UKPDS 33). Lancet. 1998; 352: 837-53.
66. Williams TC, Frohman LA.: Hypothalamic dysfunction associated with hemochromatosis. Ann Intern Med. 1985; 103: 550-1.
67. Siminoski K, D'Costa M, Walfish PG: Hypogonadotropic hypogonadism in idiopathic haemochromatosis: evidence for combined hypothalamic and pituitary involvement. J Endocrinol Invest. 1990; 13: 849-53.
68. Piperno A, Rivolta M, D'alba R, Fargion SA, Rovelli F et al. Preclinical hypogonadism in genetic hemochromatosis in the early stage of the disease: evidence of hypothalamic dysfunction. J Endocrinol Invest. 1992; 15: 423-8.
69. Stocks AE, Martin FIR. Pituitary function in haemochromatosis. Am J Med. 1968; 45: 839-45.
70. Simon M, Franchimont P, Murie N, Ferrand B, van Cauwenberge H, Hourel M. Study of somatotrophic and gonadotrophic pituitary function in idiopathic haemochromatosis. Eur J Clin Invest. 1972; 2: 384.
71. McNeil LW, McKee LC, Lorber D, Rabin D. The endocrine manifestations of haemochromatosis. Am J Med Sci. 1983; 285: 7-13.
72. Stocks AE, Powell LW. Pituitary function in haemochromatosis and cirrhosis of the liver. Lancet. 1972; 2: 298-9.
73. Tourniaire J, Fèvre M, Mazenod B, Ponsin G.. Effects of clomiphene citrate and synthetic LHRH on serum luteinising hormone (LH) in men with idiopathic haemochromatosis. J Clin Endocrinol Metab. 1974; 38: 1122-4.
74. Bezwoda WR, Bothwell TH, Van Der Walt LA, Kronheim P, Pimstone BL. An investigation into gonadal dysfunction in patients with idiopathic haemochromatosis. Clinical Endocrinol. 1976; 6: 377-85.
75. Walsh CH, Wright AD, Williams JW, Holder G. A study of pituitary function in patients with idiopathic haemochromatosis. J Clin Endocrinol Metab. 1976; 43: 866-72.
76. Bercovici JP, Darragon T, Caroff J, Le Roy D. L'exploration hypophysaire des hémochromatoses idiopathiques. Sem Hop Paris. 1979; 55: 1606-12.
77. Altman JJ, Zygelman M, Roger M, Fiet J Passa P:The GnRH test in idiopathic hemochromatosis. J Endocrinol Invest. 1980; 3: 223-7.
78. Charbonnel B, Chupin M, Le Grand A, Guillon J: Pituitary function in idiopathic haemochromatosis: hormonal study in 36 male patients. Acta Endocrinol. 1981; 98: 178-83.
79. Henrion J, Heller F, Lebacq E. Etude de la fonction hypophysaire en cas d'hémochromatose idiopathique. Acta Gastroenterologica Belgica. 1982; 45: 199-209.
80. Walton C, Kelly WF, Laing I, Block DE. Endocrine abnormalities in idiopathic haemochromatosis. Q J Med. 1983; 205: 99-110.
81. Duranteau L, Chanson P, Blumberg Tick J et al. Non responsiveness of serum gonadotropins and testosterone to pulsatile GnRH in hemochromatosis suggesting a pituitary defect. Acta Endocrinol. 1993; 128: 3511-54.
82. Selvais PL. L'atteinte de la fonction gonadique dans l'hémochromatose génétique. Louvain Méd. 1993; 112: 375-8.
83. Baker HWG. Reproductive effects of nontesticular illness. In: Endocrinology and Metabolism Clinics of North America: 27(4): 831-850, Philadelphia, Saunders (1998).
84. Bergeron C, Kovacs K. Pituitary siderosis: a histologic immunocytologic and ultrastructural study. Am J Pathol. 1978; 93: 295-306.
85. Meyer W, Hutchinson-Williams K, Jones E, Decherey A. Secondary hypogonadism in hemochromatosis. Fertil Steril. 1990; 54: 740-2.
86. Selvais PL, Henrion J. Successful treatment by gonadotrophins of a patient with genetic haemochromatosis and infertility. (Letter) Postgrad J Med. 1993; 69: 241.
87. Cundy T, Bomford A, Butler J, Wheeler M, Williams R. Hypogonadism and sexual dysfunction in hemochromatosis: the effects of cirrhosis and diabetes. J Clin Endocrinol Metab. 1989; 69: 110-6.
88. Kley JK, Niederau C, Stremmel W. Conversion of androgens to estrogens in idiopathic hemochromatosis: comparison with alcoholic liver cirrhosis. J Clin Endocrinol Metab. 1985; 61: 1-6.
89. Stremmel W, Niederau C, Berger M, Kley HK, Krüskemper HL, Strohmeyer G. Abnormalities in estrogen, androgen, and insulin metabolism in idiopathic hemochromatosis. N Y Ac Sc. 1987; 209-23.
90. Bannister P, Oakes J, Sheridan P, Losowsky MS. Sex hormone changes in chronic liver disease: a matched study of alcoholic versus non alcoholic liver disease. Q J Med. 1987; 63: 305-13.
91. Bannister P, Handlex T, Chapman C, Losowsky MS. Hypogonadism in chronic liver disease: impaired release of luteinising hormone. Br Med J. 1986; 293: 1191-3.
92. Kelly TM, Edwards CQ, Meikle AW, Kushner JP. Hypogonadism in hemochromatosis: reversal with iron depletion. Ann Intern Med. 1984; 101: 629.
93. Siemens LJ, Mahler CH. Hypogonadotropic hypogonadism in haemochromatosis: recovery of reproductive function after iron depletion. J Clin Endocrinol Metab. 1987; 65(3): 585-7.
94. Lufkin EG, Baldus WP, Bergstralh EJ, Kao PC. Influence of phlebotomy treatment on abnormal hypothalamic-pituitary function in genetic hemochromatosis. Mayo Clin Proc. 1987; 62: 473-9.
95. Cundy T, Butler J, Bomford A, Williams R. Reversibility of hypogonadotrophic hypogonadism associated with genetic haemochromatosis. Clinical Endocrinol. 1993; 38: 617-20.
96. Bricaire H, Guillon J, Leprat J, Modigliani E. Le syndrome endocrinien des hémochromatoses idiopathiques. Soc Med Hop Paris. 1966; 117: 909-28.
97. Levy C, Carlson H. Decreased prolactin reserve in hemochromatosis. J Clin Endocrinol Metab. 1978; 47(2): 444-6.
98. Walsh CH, Murphy AL, Cunningham S, McKenna TJ. Mineralocorticoid and glucocorticoid status in idiopathic haemochromatosis. Clinical Endocrinol. 1994; 41: 439-43.
99. Edwards CQ, Thomas M, Kelly D, Ellwein G, Kushner P: Thyroïd disease in haemochromatosis. Arch Intern Med. 1983; 143: 1890-3.
100. Thomas JP. Aldosterone deficiency in a patient with idiopathic haemochromatosis. Clinical Endocrinol. 1984; 21: 271-7.
101. Pietrangelo A, Montosi G, Totaro A, Garuti C, Conte D, Cassanelli S, Fraquelli M, Sardini C, Vasta F, Gasparini P. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med. 1999; 341: 725-722