Bone Diseases pp 183-193 | Cite as

Metabolic and Storage Diseases

  • Claus-Peter Adler

Abstract

Disorders of metabolism, which are bound up with the storage of physiological substances, can also bring about changes in the skeleton. These substances are mostly stored in the cells of the reticulo-histiocytic system, which is significantly activated. For this reason the pathological storage foci in the bone are mostly found in the marrow cavity. Here they destroy the cancellous trabeculae, producing a reactive osteoporosis and often leading to localized bone necroses. This bone destruction is seen in the radiograph as an irregular patchy osteolysis. Since they are systemic diseases, several lesions in several different bones usually appear. Apart from the bones, other tissues and parenchymatous organs may be involved, and this can cause functional disorders.

Keywords

Cholesterol Foam Osteoporosis Tuberculosis Neuropathy 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Adler CP (1980) Granulomatöse Erkrankungen im Knochen. Verh Dtsch Ges Pathol 64:359–365Google Scholar
  2. Agarwal AK (1993) Gout and pseudogout (Rev). Primary Care: Clinics in Office Practice 20:839–855PubMedGoogle Scholar
  3. Alaren-Segovia D, Centina JA, Diaz-Jouanen E (1973) Sacroiliac joints in primary gout. Am J Roentgenol 118: 438–443CrossRefGoogle Scholar
  4. Amstutz HC, Carey EJ (1966) Skeletal manifestations and treatment of Gaucher’s disease. J Bone Joint Surg Am 48:670–701PubMedGoogle Scholar
  5. Ashkenazy A, Zairov R, Matoth Y (1986) Effect of splenomegaly on destructive bone changes in children with chronic (type I) Gaucher disease. Eur J Radiol 145:138Google Scholar
  6. Barthelemy CR, Nakayama DA, Carrera GF et al (1984) Gouty arthritis: a prospective radiographic evaluation of sixty patients. Skeletal Radiol 11:1–8PubMedCrossRefGoogle Scholar
  7. Bauer R (1968) Osteomyelitis urica. Fortschr Röntgenstr 108:266CrossRefGoogle Scholar
  8. Beutler E (1993) Modern diagnostic and treatment of Gaucher’s disease (Rev). Am J Dis Child 147:1175–1183PubMedGoogle Scholar
  9. Boccalatte M, Pratesi G, Calabrese G et al (1994) Amyloid bone disease and highly permeable synthetic membranes. Internat. J Artificial Organs 17:203–208Google Scholar
  10. Bondurant RE, Henry JB (1965) Pathogenesis of ochronosis in experimental alkaptonuria of the white rat. Lab Invest 14:62–69PubMedGoogle Scholar
  11. Casey TT, Stone WJ, DiRaimondo CR et al (1986) Tumoral amyloidosis of bone of beta2 microglobulin origin in association with long-term hemadialysis: a new type of amyloid disease. Hum Pathol 17:731–738PubMedCrossRefGoogle Scholar
  12. Cohen PR, Schmidt WA, Rapini RP (1991) Chronic tophaceous gout with severely deforming arthritis: a case report with emphasis on histopathologic considerations. Cutis 48:445–451PubMedGoogle Scholar
  13. Cooper JA, Moran TJ (1957) Studies on ochronosis. Arch Pathol 64:46–53Google Scholar
  14. Dihlmann W, Fernholz HJ (1969) Gibt es charakteristische Röntgenbefunde bei der Gicht? Dtsch Med Wochenschr 94:1909–1911PubMedCrossRefGoogle Scholar
  15. Epstein E (1924) Beitrag zur Pathologie der Gaucherschen Krankheit. Virchows Arch 253:157–207CrossRefGoogle Scholar
  16. Fassbender HG (1972) Zur Pathologie der Gicht. Therapiewoche 22:105–108Google Scholar
  17. Fisher ER, Reidbord H (1962) Gaucher’s disease: Pathogenic considerations based on electron microscopic and histochemical observations. Am J Pathol 41:679–692PubMedGoogle Scholar
  18. Foldes K, Petersilge CA, Weisman MH, Resnick D (1996) Nodal osteoarthritis and gout: a report of four new cases. Skeletal Radiol 25:421–424PubMedCrossRefGoogle Scholar
  19. Greenfield GB (1970) Bone changes in chronic adult Gaucher’s disease. Am J Roentgenol 110:800–807CrossRefGoogle Scholar
  20. Hemmati A, Vogel W (1969) Schwere Knochendestruktionen bei Gicht-Arthritis. Chirurg 40:285–287PubMedGoogle Scholar
  21. Hermann G, Shapiro RS, Abdelwahab IF, Grabowski G (1993) MR imaging in adults with Gaucher disease type I: evaluation of marrow involvement and disease activity. Skeletal Radiol 22:247–251PubMedGoogle Scholar
  22. Hermann G, Shapiro RS, Abdelwahab IF et al (1994) Extraosseous extension of Gaucher cell deposits mimicking malignancy. Skeletal Radiol 23:253–256PubMedCrossRefGoogle Scholar
  23. Ishida T, Dorfman HD, Bullough PG (1995) Tophaceous pseudogout (tumoral calcium pyrophosphate dihydrate crystal deposition disease). Hum Pathol 26:587–593PubMedCrossRefGoogle Scholar
  24. Jaffe HL (1972) Metabolic, degenerative, and inflammatory diseases of bones and joints. Urban & Schwarzenberg, Munich, pp 479–505Google Scholar
  25. Kurer MH, Baillod RA, Madgwick JC (1991) Musculoskeletal manifestations of amyloidosis. A review of 83 patients on haemodialysis for at least 10 years. J Bone Joint Surg Br 73:271–276PubMedGoogle Scholar
  26. Lally EV, Zimmermann B, Ho G Jr, Kaplan SR (1989) Urate-mediated inflammation in nodal osteoarthritis: clinical and roentgenographic correlations. Arthritis Rheum 32: 86–90PubMedCrossRefGoogle Scholar
  27. Levin B (1961) Gaucher’s disease. Clinical and roentgenologic manifestations. Am J Roentgenol 85:685–696Google Scholar
  28. Lichtenstein L, Scott HW, Levin MH (1956) Pathologic changes in gout: survey of eleven necropsied cases. Am J Pathol 32:871–887PubMedGoogle Scholar
  29. Linduskova M, Hrba J, Vykydal M, Pavelka K (1992) Needle biopsy of joints: its contribution to the diagnosis of ochronotic arthropathy (alcaptonuria). Clin Rheumatol 11:569–570PubMedCrossRefGoogle Scholar
  30. MacCollum DE, Odom GL (1965) Alkaptonuria, ochronosis, and low-back pain. J Bone Joint Surg Am 47:1389Google Scholar
  31. Martel W (1968) The overhanging margin of bone: a roentgenologic manifestation of gout. Radiology 91:755–756PubMedGoogle Scholar
  32. Matoth Y, Fried K (1965) Chronic Gaucher’s disease. Clinical observations on 34 patients. Israel J Med Sci 1:521PubMedGoogle Scholar
  33. Mauvoisin F, Bernard J, Gémain J (1955) Aspects tomographiques des hanches chez un gotteux. Rev Rhum 22: 336–337PubMedGoogle Scholar
  34. Melis M, Onori P, Aliberti G, Vecci E, Gaudio E (1994) Ochronotic arthropathy: structural and ultrastructural features. Ultrastruct Pathol 18:467–471PubMedCrossRefGoogle Scholar
  35. Murray RO, Jacobson HG (1977) The radiology of skeletal disorders, 2nd edn, vol. 11. Churchill Livingstone, Edinburgh, pp 850–853Google Scholar
  36. Nägele E (1957) Röntgenbefunde bei Alkaptonurie. Fortschr Röntgenstr 87:523–529CrossRefGoogle Scholar
  37. Pastores GM, Hermann G, Norton KI, Lorberboym M, Desnick RJ (1996) Regression of skeletal changes in Type I Gaucher disease with enzyme replacement therapy. Skeletal Radiol 25:485–488PubMedCrossRefGoogle Scholar
  38. Peloquin LA, Graham JH (1955) Gout of the patella: report of a case. N Engl J Med 253:979–980PubMedCrossRefGoogle Scholar
  39. Pommer G (1929) Mikroskopische Untersuchungen über Gelenkgicht. Fischer, JenaGoogle Scholar
  40. Rosenberg EF, Arens RA (1947) Gout: clinical, pathologic and roentgenographic oberservations. Radiology 49:169–177PubMedGoogle Scholar
  41. Rosenthal DI, Barton NW, McKusick KA et al (1992) Quantitative imaging of Gaucher disease. Radiology 185:841PubMedGoogle Scholar
  42. Ross LV, Ross GJ, Mesgarzadeh M, Edmonds PR, Bonakdar-pour A (1991) Hemodialysis-related amyloidomas of bone. Radiology 178:263–265PubMedGoogle Scholar
  43. Rourke JA, Heslin DJ (1965) Gaucher’s disease. Roentgenologic bone changes over 20 year interval. Am J Roentgenol 94:621–630Google Scholar
  44. Ryan SJ, Smith CD, Slevin JT (1994) Magnetic resonance imaging in ochronosis: a rare cause of back pain. J Neuroiniaging 4:41–42Google Scholar
  45. Schindelmeiser J, Radzun HJ, Munstermann D (1991) Tartrate-resistant, purple acid phosphatase in Gaucher cells of the spleen. Immuno- and cytochemical analysis. Pathol Res Pract 187:209–213PubMedCrossRefGoogle Scholar
  46. Silverstein MN, Kelly PJ (1967) Osteoarticular manifestation of Gaucher’s disease. Am J Med Sci 253:569–577PubMedCrossRefGoogle Scholar
  47. Simon I (1962) Ein Fall einer durch Gicht verursachten schweren Knochenzerstörung. Fortschr Röntgenstr 96:835–836CrossRefGoogle Scholar
  48. Starer F, Sargent JD, Hobbs JR (1987) Regression of the radiological changes of Gaucher’s disease following bone marrow transplantation. Br J Radiol 60:1189–1195PubMedCrossRefGoogle Scholar
  49. Talbott JH (1957) Gout. Grime & Stratton, New YorkGoogle Scholar
  50. Thomas C (1973) Nierenveränderungen bei Gicht. Intern Welt 2:59Google Scholar
  51. Uehlinger E (1970) Strukturwandlungen des Skeletts bei metabolischen Erkrankungen. Nova Acta Leopoldina (NF) 194/35:217–237Google Scholar
  52. Uehlinger E (1976) Die pathologische Anatomie der Gicht. In: Schwiegk H (ed) Handbuch der inneren Medizin, 5th edn, vol VII/3. Springer, Berlin Heidelberg New York, pp 213–234Google Scholar
  53. Zimran A, Kay A, Gelbart T et al (1992) Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine 71:337–353PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2000

Authors and Affiliations

  • Claus-Peter Adler
    • 1
  1. 1.Pathologisches Institut Ludwig-Aschoff-Haus, Referenzzentrum für KnochenkrankheitenUniversität FreiburgFreiburgGermany

Personalised recommendations