Der Orthopäde

, Volume 39, Issue 6, pp 637–646 | Cite as

Arthrosen bei hereditären Stoffwechselerkrankungen

CME Weiterbildung · Zertifizierte Fortbildung

Zusammenfassung

Arthrosen der peripheren Gelenke sind sehr häufige Erkrankungen und betreffen hauptsächlich Menschen ab dem 50. Lebensjahr. Es ist wichtig, primäre von sekundären Arthrosen abzugrenzen. Ein Auftreten in jungem Lebensalter, ungewöhnliche Krankheitsmanifestationen, eine rasche Progression und Begleiterkrankungen sollten zu einer kritischen Hinterfragung der Diagnose primäre Arthrose führen. Dieser Übersichtsartikel fasst eine wichtige Gruppe der sekundären Arthrosen zusammen. Hereditäre Stoffwechselerkrankungen können eine Gelenkbeteiligung aufweisen. Für einige von ihnen ist eine korrekte Diagnosestellung von außerordentlicher Relevanz, da eine adäquate Therapie nicht nur Gelenkfunktion und Lebensqualität beeinflusst, sondern auch relevante Endorganschäden verhindern kann.

Schlüsselwörter

Arthrose Hämochromatose Chondrokalzinose Ochronose Genetik 

Osteoarthritis in hereditary metabolic diseases

Abstract

Primary osteoarthritis (OA) of peripheral joints is a common disease mainly occurring after the age of 50. It is important to distinguish primary from secondary OA. Younger age at disease onset, rapid progression, unusual disease manifestations and co-morbidities are signs of secondary OA. This review outlines an important group of secondary OA. Hereditary metabolic diseases can exhibit joint involvement. For some of these diseases, correct diagnosis is critical, since appropriate therapy influences not only joint function and quality of life, but can also prevent relevant end-organ damage.

Keywords

Osteoarthritis Hemochromatosis Chondrocalcinosis Ochronosis Genetics 

Literatur

  1. 1.
    Datz C, Lalloz MR, Vogel W et al (1997) Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis. J Hepatol 27(5):773–779CrossRefPubMedGoogle Scholar
  2. 2.
    Wallace DF, Subramaniam VN (2007) Non-HFE haemochromatosis. World J Gastroenterol 13(35):4690–4698PubMedGoogle Scholar
  3. 3.
    Wallace DF, Pedersen P, Dixon JL et al (2002) Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis. Blood 100(2):692–694CrossRefPubMedGoogle Scholar
  4. 4.
    Griffiths WJ (2007) Review article: the genetic basis of haemochromatosis. Aliment Pharmacol Ther 26(3):331–342PubMedGoogle Scholar
  5. 5.
    Gurrin LC, Bertalli NA, Dalton GW et al (2009) HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity. Hepatology 50(1):94–101CrossRefPubMedGoogle Scholar
  6. 6.
    Holmstrom P, Marmur J, Eggertsen G et al (2002) Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patients with suspected iron overload and healthy controls. Gut 51(5):723–730CrossRefPubMedGoogle Scholar
  7. 7.
    Mura C, Raguenes O, Ferec C (1999) HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 93(8):2502–2505PubMedGoogle Scholar
  8. 8.
    Ludwiczek S, Theurl I, Bahram S et al (2005) Regulatory networks for the control of body iron homeostasis and their dysregulation in HFE mediated hemochromatosis. J Cell Physiol 204(2):489–499CrossRefPubMedGoogle Scholar
  9. 9.
    Pantopoulos K (2008) Function of the hemochromatosis protein HFE: Lessons from animal models. World J Gastroenterol 14(45):6893–6901CrossRefPubMedGoogle Scholar
  10. 10.
    Vujic Spasic M, Kiss J, Herrmann T et al (2007) Physiologic systemic iron metabolism in mice deficient for duodenal Hfe. Blood 109(10):4511–4517CrossRefGoogle Scholar
  11. 11.
    Vujic Spasic M, Kiss J, Herrmann T et al (2008) Hfe acts in hepatocytes to prevent hemochromatosis. Cell Metab 7(2):173–178CrossRefGoogle Scholar
  12. 12.
    Ismail MK, Martinez-Hernandez A, Schichman S et al (2009) Transplantation of a liver with the C282Y mutation into a recipient heterozygous for H63D results in iron overload. Am J Med Sci 337(2):138–142CrossRefPubMedGoogle Scholar
  13. 13.
    Schmidt PJ, Toran PT, Giannetti AM et al (2008) The transferrin receptor modulates Hfe-dependent regulation of hepcidin expression. Cell Metab 7(3):205–214CrossRefPubMedGoogle Scholar
  14. 14.
    Wallace DF, Summerville L, Crampton EM et al (2009) Combined deletion of Hfe and transferrin receptor 2 in mice leads to marked dysregulation of hepcidin and iron overload. Hepatology 50(6):1992–2000CrossRefPubMedGoogle Scholar
  15. 15.
    Nicolas G, Bennoun M, Devaux I et al (2001) Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc Natl Acad Sci U S A 98(15):8780–8785CrossRefPubMedGoogle Scholar
  16. 16.
    Bridle KR, Frazer DM, Wilkins SJ et al (2003) Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis. Lancet 361(9358):669–673CrossRefPubMedGoogle Scholar
  17. 17.
    Niederau C, Fischer R, Sonnenberg A et al (1985) Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. N Engl J Med 313(20):1256–1262PubMedGoogle Scholar
  18. 18.
    Waalen J, Nordestgaard BG, Beutler E (2005) The penetrance of hereditary hemochromatosis. Best Pract Res Clin Haematol 18(2):203–220CrossRefPubMedGoogle Scholar
  19. 19.
    Diwakaran HH, Befeler AS, Britton RS et al (2002) Accelerated hepatic fibrosis in patients with combined hereditary hemochromatosis and chronic hepatitis C infection. J Hepatol 36(5):687–691CrossRefPubMedGoogle Scholar
  20. 20.
    Allen KJ, Gurrin LC, Constantine CC et al (2008) Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med 358(3):221–230CrossRefPubMedGoogle Scholar
  21. 21.
    McNeil LW, McKee LC Jr, Lorber D, Rabin D (1983) The endocrine manifestations of hemochromatosis. Am J Med Sci 285(3):7–13CrossRefPubMedGoogle Scholar
  22. 22.
    Schumacher HR Jr (1964) Hemochromatosis and arthritis. Arthritis Rheum 7:41–50CrossRefPubMedGoogle Scholar
  23. 23.
    Schumacher HR, Straka PC, Krikker MA, Dudley AT (1988) The arthropathy of hemochromatosis. Recent studies. Ann N Y Acad Sci 526:224–233CrossRefPubMedGoogle Scholar
  24. 24.
    Carlsson A (2009) Hereditary hemochromatosis: a neglected diagnosis in orthopedics: a series of 7 patients with ankle arthritis, and a review of the literature. Acta Orthop 80(3):371–374CrossRefPubMedGoogle Scholar
  25. 25.
    Jager HJ, Mehring U, Gotz GF et al (1997) Radiological features of the visceral and skeletal involvement of hemochromatosis. Eur Radiol 7(8):1199–1206CrossRefPubMedGoogle Scholar
  26. 26.
    Atkins CJ, McIvor J, Smith PM et al (1970) Chondrocalcinosis and arthropathy: Studies in haemochromatosis and in idiopathic chondrocalcinosis. Q J Med 39(153):71–82PubMedGoogle Scholar
  27. 27.
    Axford JS, Bomford A, Revell P et al (1991) Hip arthropathy in genetic hemochromatosis. Radiographic and histologic features. Arthritis Rheum 34(3):357–361CrossRefPubMedGoogle Scholar
  28. 28.
    Muirden KD, Senator GB (1968) Iron in the synovial membrane in rheumatoid arthritis and other joint diseases. Ann Rheum Dis 27(1):38–48CrossRefPubMedGoogle Scholar
  29. 29.
    Ruiz Heiland G, Aigner E, Dallos T et al (2009) Synovial immunopathology in hemochromatosis arthropathy. Ann Rheum DisGoogle Scholar
  30. 30.
    Messer JG, Kilbarger AK, Erikson KM, Kipp DE (2009) Iron overload alters iron-regulatory genes and proteins, down-regulates osteoblastic phenotype, and is associated with apoptosis in fetal rat calvaria cultures. Bone 45(5):972–979CrossRefPubMedGoogle Scholar
  31. 31.
    Delius S von, Lersch C, Schulte-Frohlinde E et al (2006) Hepatocellular carcinoma associated with hereditary hemochromatosis occurring in non-cirrhotic liver. Z Gastroenterol 44(1):39–42CrossRefGoogle Scholar
  32. 32.
    Elmberg M, Hultcrantz R, Ebrahim F et al (2009) Increased mortality risk in patients with phenotypic hereditary hemochromatosis but not in their first-degree relatives. Gastroenterology 137(4):1301–1309CrossRefPubMedGoogle Scholar
  33. 33.
    Ferenci P (2006) Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: Impact on genetic testing. Hum Genet 120(2):151–159CrossRefPubMedGoogle Scholar
  34. 34.
    Ferenci P, Caca K, Loudianos G et al (2003) Diagnosis and phenotypic classification of Wilson disease. Liver Int 23(3):139–142CrossRefPubMedGoogle Scholar
  35. 35.
    Kramer U, Weinberger A, Yarom R et al (1993) Synovial copper deposition as a possible explanation of arthropathy in Wilson’s disease. Bull Hosp Jt Dis 52(2):46–49PubMedGoogle Scholar
  36. 36.
    Vilboux T, Kayser M, Introne W et al (2009) Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Hum Mutat 30(12):1611–1619CrossRefPubMedGoogle Scholar
  37. 37.
    Borman P, Bodur H, Ciliz D (2002) Ochronotic arthropathy. Rheumatol Int 21(5):205–209CrossRefPubMedGoogle Scholar
  38. 38.
    Zhao BH, Chen BC, Shao de C, Zhang Q (2009) Osteoarthritis? Ochronotic arthritis! A case study and review of the literature. Knee Surg Sports Traumatol Arthrosc 17(7):778–781CrossRefPubMedGoogle Scholar
  39. 39.
    Effelsberg NM, Hugle T, Walker UA (2010) A metabolic cause of spinal deformity. Metabolism 59(1):140–143CrossRefPubMedGoogle Scholar
  40. 40.
    Mannoni A, Selvi E, Lorenzini S et al (2004) Alkaptonuria, ochronosis, and ochronotic arthropathy. Semin Arthritis Rheum 33(4):239–248CrossRefPubMedGoogle Scholar
  41. 41.
    McKee S, Pendleton A, Dixey J et al (2004) Autosomal dominant early childhood seizures associated with chondrocalcinosis and a mutation in the ANKH Gene. Epilepsia 45(10):1258–1260CrossRefPubMedGoogle Scholar
  42. 42.
    Pendleton A, Johnson MD, Hughes A et al (2002) Mutations in ANKH cause chondrocalcinosis. Am J Hum Genet 71(4):933–940CrossRefPubMedGoogle Scholar
  43. 43.
    Williams CJ, Zhang Y, Timms A et al (2002) Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. Am J Hum Genet 71(4):985–991CrossRefPubMedGoogle Scholar
  44. 44.
    Knoers NV, Levtchenko EN (2008) Gitelman syndrome. Orphanet J Rare Dis 3:22CrossRefPubMedGoogle Scholar
  45. 45.
    Ea HK, Blanchard A, Dougados M, Roux C (2005) Chondrocalcinosis secondary to hypomagnesemia in Gitelman’s syndrome. J Rheumatol 32(9):1840–1842PubMedGoogle Scholar
  46. 46.
    Volpe A, Caramaschi P, Thalheimer U et al (2007) Familiar association of Gitelman’s syndrome and calcium pyrophosphate dihydrate crystal deposition disease – a case report. Rheumatology (Oxford) 46(9):1506–1508Google Scholar
  47. 47.
    Chuck AJ, Pattrick MG, Hamilton E et al (1989) Crystal deposition in hypophosphatasia: a reappraisal. Ann Rheum Dis 48(7):571–576CrossRefPubMedGoogle Scholar
  48. 48.
    Beutler E, Felitti VJ, Koziol JA et al (2002) Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 359(9302):211–218CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  1. 1.Medizinische Klinik 3 mit Rheumatologie und Klinischer ImmunologieUniversität Erlangen-NürnbergErlangenDeutschland

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