REVIEW PAPER
Frequency of occurrence and relationship of known HFE gene mutations with phenotypes of selected rheumatic diseases
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Online publication date: 2011-12-28
Reumatologia 2011;49(6):432-438
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ABSTRACT
Mutations in genes coding some proteins involved in iron metabolism in men are aetiological factors for diverse forms of hereditary haemochromatosis (HH). Over the last few years the relationship between their occurrence and prevalence and manifestation of diverse rheumatic diseases (mainly osteoarthralgia and rheumatoid arthritis – RA) has been investigated. Until now we have had no answer to the question whether there is a causal relationship between them. In this paper, current knowledge on hereditary haemochromatosis aetiology, and literature review on the relationship of hereditary haemochromatosis prevalence and phenotype of selected rheumatic disorders are briefly presented (Table I).
REFERENCES (59)
1.
Whittington CA, Kowdley KV. Review article: haemochromatosis. Aliment Pharmacol Ther 2002; 16: 1693-1675. .
2.
Munoz M, Villar I, Garcia-Erce JA. An update on iron physiology. World J Gastroenterol 2009; 15: 4617-4626. .
3.
Alexander J, Kowdley KV. HFE-associated hereditary hemochromatosis. Genet Med 2009; 11: 307-313. .
4.
MacKenzie EL, Iwasaki K, Tsuji Y. Intracellular iron transport and storage: molecular mechanisms to health implications. Comprehensive invited review. Antiox Redox Signal 2008; 10: 997-1030. .
5.
Andrews NC. Forging a field: the golden age of iron biology. Blood 2008; 112: 219-230. .
6.
Hartleb M, Pająk J, Paleń P i wsp. Wrodzona hemochromatoza. Przegl Gastroenterol 2007; 2: 116-124. .
7.
Singh B, Arora S, Agrawal P, Gupta SK. Hepcidin: a novel peptide hormone regulating iron metabolism. Clin Chim Acta 2011; 412: 823-830. .
8.
Sikorska K, Bielawski KP, Romanowski T i wsp. Hemochromatoza dziedziczna – najczęstsza choroba genetyczna człowieka. Post Hig Med Dośw 2006; 60: 667-676. .
9.
Madej M. Hemochromatoza. Przegląd Reumatol 2009; II: 9. .
10.
Romanowski T, Sikorska K, Bielawski KP. Molekularne podstawy dziedzicznej hemochromatozy. Post Hig Med Dośw 2006; 60: 217-226. .
11.
Raszeja-Wyszomirska J, Ławniczak M, Milkiewicz P. Nowe aspekty wrodzonej hemochromatozy. Pol Merk Lek 2008; 24: 54-58. .
12.
Kohgo Y, Ikuta K, Ohtake T, et al. Body iron metabolism and pathophysiology of iron overload. Int J Hematol, 2008; 88: 7-15. .
13.
Mayr R, Janecke AR, Schranz M, et al. Ferroportin disease: a systematic meta-analysis of clinical and molecular findings. J Hepatol 2010; 53: 941-949. .
14.
Wallace DF, Subramanian VN. Non-HFE haemochromatosis. World J Gastroenterol 2007; 13: 4690-4698. .
15.
Hartleb M. Wrodzona hemochromatoza. W: Wielka Interna – Gastroenterologia, cz. I. Dąbrowski A (red.). Medical Tribune Polska, Warszawa 2010; 661-671. .
16.
Hanson EH, Imperatore G, Burke W. HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology. Am J Epidemiol 2001; 154: 193-206. .
17.
Adams PC, Reboussin DM, Barton JC, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005; 352: 1769-1778. .
18.
Pùtová I, Cimburová M, Jarosová K, et al. Mutations in the HFE gene in patients with rheumatic diseases. Cas Lek Cesk 2005; 144: 391-397. .
19.
Olynyk JK, Cullen DJ, Aquilia S, et al. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med 1999; 341: 718-724. .
20.
Steinberg KK, Cogswell ME, Chang JC, et al. Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. JAMA 2001; 285: 2216-2222. .
21.
Burke W, Imperatore G, McDonnell SM, et al. Contribution of different HFE genotypes to iron overload disease: a pooled analysis. Genet Med 2000; 2: 271-277. .
22.
Allen KJ, Gurrin LC, Constantine CC, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med 2008; 358: 221-230. .
23.
Waalen J, Felitti V, Gelbart T, et al. Prevalence of hemochromatosis-related symptoms among individuals with mutations in the HFE gene. Mayo Clin Proc 2002; 77: 522-530. .
24.
Feder JN, Gnirke A, Thomas W, et al. A novel MHC class-I like gene is mutated in patients with hereditary hemochromatosis. Nat Genet 1996; 13: 399-408. .
25.
Vaiopoulos G, Papanikolaou G, Politou M, et al. Arthropathy in juvenile hemochromatosis. Arthritis Rheum 2003; 48: 227-230. .
26.
De Gobbi M, Roetto A, Piperno A, et al. Natural history of juvenile hemochromatosis. Br J Haematol 2002; 117: 973-979. .
27.
Griffiths WJ. Review article: the genetic basis of haemochromatosis. Aliment Pharmacol Ther 2007; 26: 331-342. .
28.
Camaschella C, Roetto A, Cali A, et al. The gene TFR2 is mutated in a new type of hemochromatosis mapping to 7q22. Nat Genet 2000; 25: 14-15. .
29.
Marx JJ. Prevention of organ failure in hereditary haemochromatosis. Neth J Med 2002; 60: 419-422. .
30.
McDonnell SM, Preston BL, Jewell SA, et al. A survey of 2,851 patients with hemochromatosis: symptoms and response to treatment. Am J Med 1999; 106: 619-624. .
31.
Sahinbegovic E, Dallos T, Aigner E, et al. Musculoskeletal disease burden of hereditary hemochromatosis. Arthritis Rheum 2010; 62: 3792-3798. .
32.
Romas E. The “iron salute” in haemochromatosis. Austral Fam Phys 2009; 38: 113-114. .
33.
Dymock IW, Hamilton EB, Laws JW, et al. Arthropathy of haemochromatosis. Clinical and radiological analysis of 63 patients with iron overload. Ann Rheum Dis 1970; 29: 469-476. .
34.
Cauza E, Peck-Radosavljevic M, Ulrich-Pur H, et al. Mutations of the HFE gene in patients with hepatocellular carcinoma. Am J Gastroenterol 2003; 98: 442-447. .
35.
Chi ZC, Ma SZ. Rheumatologic manifestations of hepatic diseases. Hepatobil Pancreat Dis Int 2003; 2: 32-37. .
36.
Cauza E, Hanusch-Enserer U, Etemad M, et al. HFE genotyping demonstrates a .
37.
ificant incidence of hemochromatosis in undifferentiated arthritis. Clin Exp Rheumatol 2005; 23: 7-12. .
38.
Carroll GJ, Breidahl WH, Olynyk JK. Characteristics of the arthropathy described in hereditary haemochromatosis. Arthritis Care Res (Hoboken) 2011: 10.1002/acr.20501. .
39.
Carlsson A. Hereditary hemochromatosis: a neglected diagnosis in orthopedics: a series of 7 patients with ankle arthritis, and a review of the literature. Acta Orthop 2009; 80: 371-374. .
40.
Lonardo A, Neri P, Mascia MT, et al. Hereditary hemochromatosis masquerading as rheumatoid arthritis. Ann Ital Med Int 2001; 16: 46-49. .
41.
von Kempis J. Arthropathy in hereditary hemochromatosis. Curr Opin Rheumatol 2001; 13: 80-83. .
42.
Jordan JM. Arthritis in hemochromatosis or iron-storage disease. Curr Opin Rheumatol 2004; 16: 62-66. .
43.
Valenti L, Fracanzani AL, Rossi V, et al. The hand arthropathy of hereditary hemochromatosis is strongly associated with iron overload. J Rheumatol 2008; 35: 153-158. .
44.
Fam AG, Topp JR, Stein HB, et al. Clinical and roentgenographic aspects of pseudogout: a study of 50 cases and a review. Can Med Assoc J 1981; 124: 545-551. .
45.
Carroll GJ. Primary osteoarthritis in the ankle joint is associated with finger metacarpophalangeal osteoarthritis and the H63D mutation in the HFE gene: evidence for a hemochromatosis-like polyarticular osteoarthritis phenotype. J Clin Rheumatol 2006; 12: 109-113. .
46.
Ross JM, Kowalchuk RM, Shaulinsky J, et al. Association of heterozygous hemochromatosis C282Y gene mutation with hand osteoarthritis. J Rheumatol 2003; 30: 121-125. .
47.
Alizadeh BZ, Njajou OT, Hazes JM, et al. The H63D variant in the HFE gene predisposes to arthralgia, chondrocalcinosis and osteoarthritis. Ann Rheum Dis 2007; 66: 1436-1442. .
48.
Timms AE, Sathananthan R, Bradbury L, et al. Genetic testing for haemochromatosis in patients with chondrocalcinosis. Ann Rheum Dis 2002; 61: 745-747. .
49.
Willis G, Scott DG, Jennings BA, et al. HFE mutations in an inflammatory arthritis population. Rheumatology (Oxford) 2002; 41: 176-179. .
50.
Sherrington CA, Knuiman MW, Divitini ML, et al. Population-based study of the relationship between mutations in the hemochromatosis (HFE) gene and arthritis. J Gastroenterol Hepatol 2006; 21: 595-598. .
51.
McLaren GD, McLaren CE, Adams PC, et al. Clinical manifestations of hemochromatosis in HFE C282Y homozygotes identified by screening. Can J Gastroenterol 2008; 22: 923-930. .
52.
Rovetta G, Grignolo MC, Buffrini L, et al. Prevalence of C282Y mutation in patients with rheumatoid arthritis and spondylarthritis. Int J Tissue React 2002; 24: 105-109. .
53.
Rovetta G, Monteforte P, Buffrini L, et al. Prevalence of HFE and TFR2 gene mutation in 118 Ligurian rheumatic patients. Minerva Med 2004; 95: 535-539. .
54.
Li J, Zhu Y, Singal DP. HFE gene mutations in patients with rheumatoid arthritis. J Rheumatol 2000; 27: 2074-2077. .
55.
Wernicke D, Seipelt E, Schmidt WA, et al. Manifestation of rheumatoid arthritis in a patient with hereditary haemochromatosis. Rheumatol Int 2006; 26: 939-941. .
56.
Aigner E, Schmid I, Osterreicher CH, et al. Contribution of anti-cyclic citrullinated peptide antibody and rheumatoid factor to the diagnosis of arthropathy in haemochromatosis. Ann Rheum Dis 2007; 66: 1249-1251. .
57.
Donnelly SC, Joshi NG, Thorburn D, et al. Prevalence of genetic haemochromatosis and iron overload in patients attending rheumatology and joint replacement clinics. Scott Med J 2010; 55: 14-16. .
58.
Bryant J, Cooper K, Picot J, at al. Diagnostic strategies using DNA testing for hereditary haemochromatosis in at-risk populations: a systematic review and economic evaluation. Health Technol Assess 2009; 13: iii, ix-xi, 1-126. .
59.
Raszeja-Wyszomirska J, Kurzawski G, Zawada I i wsp. Mutacje genu HFE u pacjentów z alkoholową chorobą wątroby. Prospektywne badanie w północno-zachodniej Polsce. Pol Arch Med Wewn 2010; 120: 127-131.
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