Storage and Deposition Diseases

  • Duncan A. Gordon


  • Some unusual arthropathies are caused by deposition of normal material, such as metal ions, or storage of abnormal material, such as lipids.

  • Hemochromatosis, ochronosis, and Wilson’s disease are characterized by cellular deposition of the normal metal ions: iron, calcium, and copper, respectively.

  • ■ In Gaucher’s disease, Fabry’s disease, Farber’s disease, and multicentric reticulohistiocytosis, rheumatic manifestations result from cellular storage of abnormal lipids.


Enzyme Replacement Therapy Fabry Disease Deposition Disease C282Y Mutation Homogentisic Acid 
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  1. 1.
    Rooney PJ. Hyperlipidemias, lipid storage disorders, metal storage disorders and ochronosis. Curr Opin Rheumatol 1991;3:166–171.PubMedCrossRefGoogle Scholar
  2. 2.
    Pietrangelo A. Hereditary hemochromatosis—a new look at an old disease. N Engl J Med 2004;350:2383–2397.PubMedCrossRefGoogle Scholar
  3. 3.
    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.PubMedCrossRefGoogle Scholar
  4. 4.
    Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated inpatients with hereditary hemochromatosis. Nat Genet 1996;13:399–408.PubMedCrossRefGoogle Scholar
  5. 5.
    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.PubMedCrossRefGoogle Scholar
  6. 6.
    Piperno A, Fargion S, D’Alba R, et al. Liver damage in Italian patients with hereditary hemochromatosis is highly influenced by hepatitis B and C virus infection. J Hepatol 1992;16:364–368.PubMedCrossRefGoogle Scholar
  7. 7.
    Mathews JL, Williams HJ. Arthritis in hereditary hemochromatosis. Arthritis Rheum 1987;30:1137–1141.PubMedCrossRefGoogle Scholar
  8. 8.
    Ross JM, Kowalchuk RM, Shaulinsky J, et al. Association of heterozygous hemochromatosis C282Y gene mutation with hand osteoarthritis. J Rheumatol 2003;30:121–125.PubMedGoogle Scholar
  9. 9.
    Perry MB, Suwannarat P, Furst GP, et al. Musculoskeletal findings and disability in alkaptonuria. J Rheumatol 2006; 33:2280–2285.PubMedGoogle Scholar
  10. 10.
    Fernandez-Canon JM, Grandadino B, Beltram-Valero de Bernabe D, et al. The molecular basis of alkaptonuria. Nat Genet 1996;14:19–24.PubMedCrossRefGoogle Scholar
  11. 11.
    Gaines JJ, Tom GD, Khan Khanian N. The ultrastructural and light microscopic study of the synovium in ochronotic arthropathy. Hum Pathol 1987;8:1160–1164.CrossRefGoogle Scholar
  12. 12.
    Suwannarat P, D’Brien K, Perry MB, et al. Use of nitisinone in patients with alkaptonuria.Metabolism 2005;54:719–728.PubMedCrossRefGoogle Scholar
  13. 13.
    Gow PJ, Smallwood RA, Angust PW, et al. Diagnosis of Wilson’s disease: an experience over three decades. Gut 2000;46:415–419.PubMedCrossRefGoogle Scholar
  14. 14.
    Memerey KA, Eider W, Brewer GJ, et al. The arthropa thy of Wilson’s disease: clinical and pathologic features. J Rheumatol 1988;15:331–337.Google Scholar
  15. 15.
    Pastores GM, Meere PA. Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucupoly saccharidosis type 1). Curr Opin Rheumatol 2005;17: 70–78.PubMedCrossRefGoogle Scholar
  16. 16.
    Grabowski GA. Enzyme therapy is not enough. Lancet 2001;358(Suppl):S29.PubMedCrossRefGoogle Scholar
  17. 17.
    Brady RO. Emerging strategies for the treatment of hereditary metabolic storage disorders. Rejuvenation Res 2006;9:237–244.PubMedCrossRefGoogle Scholar
  18. 18.
    Schiffmann R, Kopp JB, Austin HA3rd, et al. Enzyme replacement therapy in Fabry Disease: a randomized controlled trial. JAMA 2001;285:2743–2749.PubMedCrossRefGoogle Scholar
  19. 19.
    Chanoki M, Ishii M, Fukaik, et al. Farber’s lipogranulo matosis in siblings: light and electron microscopic studies. Br J Dermatol 1989;121:779–785.PubMedCrossRefGoogle Scholar
  20. 20.
    Rodey GE, et al. Defective bacteriocidel activity of peripheral blood leukocytes in lipochrome histiocytosis. Am J Med 1970;49:322–327.PubMedCrossRefGoogle Scholar
  21. 21.
    Gorman JD, Danning C, Schumacher HR, et al. Multi centric reticulohistiocytosis: case report with immuno chemical analysis and literature review. Arthritis Rheum 2000;43:930–938.PubMedCrossRefGoogle Scholar
  22. 22.
    Romas E, Finlay M, Woodruff T. The arthropathy of fibro blastic rheumatism. Arthritis Rheum 1997;40:183–187.PubMedCrossRefGoogle Scholar
  23. 23.
    Shannon SE, Schumacher HR, Self S, Brown AN. Multi centric reticulohistiocytosis responding to tumor necrosis factor-alpha inhibition in a renal transplant patient. J Rheumatol 2005;32:565–567.PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC. 2008

Authors and Affiliations

  • Duncan A. Gordon
    • 1
    • 2
  1. 1.Toronto Western HospitalUniversity Health NetworkTorontoCanada
  2. 2.Department of MedicineUniversity of TorontoTorontoCanada

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