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Less Common Arthropathies

A. Hematologic and Malignant Disorders
  • Adel G. Fam

Abstract

  • Recurrent hemarthrosis is the primary clinical manifestation of hemophilia.

  • Hemophilia A (classic hemophilia) is a heritable, X-linked recessive disorder of blood coagulation, occurring almost exclusively in males. The disorder is associated with a deficiency of factor VIII.

  • Hemophilia B (Christmas disease), somewhat rarer but essentially indistinguishable clinically from hemophilia A, is caused by factor IX deficiency.

  • Sickle-cell hemoglobinopathies associated with chronic hemolytic anemia and rheumatic manifestations include both homozygous sickle-cell anemia (Hb SS) and the heterozygous states: sickle-beta thalassemia, sickle-C (S-C) disease, and sickle-D (S-D) disease.

  • Sickle-cell disease results from a single nucleotide substitution of valine for glutamic acid in the beta globin gene.

  • In SS disease, the painful crises, osteonecrosis, and dactylitis are the result of small blood vessel occlusion in the bone marrow by sickled red cells.

  • Osteomyelitis in patients with Hb SS disease is due to a combination of ischemic bone infarction and impaired host immunity. Salmonella is the most common organism.

  • Thalassemia is a group of inherited hemoglobin disorders characterized by defects in the synthesis of one or more of the alpha or beta subunits of Hb.

  • In beta-thalassemia, the reduced or absent production of beta chains leads to the production of an imbalance between the numbers of alpha and beta chains. This leads, in turn, to unstable Hb molecules, precipitation of the unaffected chains during erythropoiesis, and hemolysis.

  • ■ Mechanisms by which cancer can cause musculoskeletal symptoms include direct tumor invasion of bones and joints, hemorrhage into the joint, secondary gout, and paraneoplastic syndromes.

Keywords

Factor VIII Recombinant Factor VIII Poem Syndrome Hypertrophic Osteoarthropathy Direct Tumor Invasion 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Peake I. The molecular basis of haemophilia A. Haemophilia 1998;4:346–349.PubMedCrossRefGoogle Scholar
  2. 2.
    Lillicup D. The molecular basis of haemophilia B. Haemophilia 1998;4:350–357.CrossRefGoogle Scholar
  3. 3.
    Hilgartner MW. Current treatment of hemophilic arthropathy. Curr Opin Pediatr 2002;14:46–49.PubMedCrossRefGoogle Scholar
  4. 4.
    Ballas SK. Sickle cell disease: clinical management. Baillieres Clin Hematol 1998;11:185–214.CrossRefGoogle Scholar
  5. 5.
    Platt OS, Thorington BD, Brambilla DJ, et al. Pain in sickle cell disease. Rates and risk factors. N Engl J Med 1991;325:11–16.PubMedCrossRefGoogle Scholar
  6. 6.
    Almeida A, Roberts I. Bone involvement in sickle cell disease. Br J Haematol 2005;129:482–490.PubMedCrossRefGoogle Scholar
  7. 7.
    Vichinsky EP, Neumayr LD, Haberkern C,et al. The perioperative complication rate of orthopedic surgery in sickle cell disease: report of the national sickle cell surgery study group. Am J Hematol 1999;62:129–138.PubMedCrossRefGoogle Scholar
  8. 8.
    Jacobson SJ, Kopecky EA, Joshi P, Babul N. Randomized trial of oral morphine for painful episodes of sickle-cell disease in children. Lancet 1997;350:1358–1361.PubMedCrossRefGoogle Scholar
  9. 9.
    Moore RD, Charache S, Terrin ML, et al. Cost-effectiveness of hydroxyurea in sickle cell anemia. Am J Hematol 2000;64:26–31.PubMedCrossRefGoogle Scholar
  10. 10.
    Perrine SP, Boosalis V. Thalassemia. In: Rakel RE, Bope ET, eds. Conn’s current therapy. Philadelphia: Saunders (Elsevier); 2006:488–492.Google Scholar
  11. 11.
    Fam AG. Paraneoplastic rheumatic syndromes. Baillieres Clin Rheumatol 2000;14:515–533.CrossRefGoogle Scholar
  12. 12.
    Fam AG, Kolin A, Lewis AJ. Metastatic carcinomatous arthritis and carcinoma of the lung. A report of two cases diagnosed by synovial fl uid cytology. J Rheumatol 1980; 7:98–104.PubMedGoogle Scholar
  13. 13.
    Evans TL, Nercessian BM, Sanders KM. Leukemic arthritis. Semin Arthritis Rheum 1994;24:48–56.PubMedCrossRefGoogle Scholar
  14. 14.
    Fam AG, Voorneveld C, Robinson JB, Sheridan BL. Synovial fluid immunocytology in the diagnosis of leukemic synovitis. J Rheumatol 1991;18:293–296.PubMedGoogle Scholar
  15. 15.
    Dorfman HD, Siegeel HL, Perry MC, Oxenhandler R. Non-Hodgkin’s lymphoma of the synovium simulating rheumatoid arthritis. Arthritis Rheum 1987;30:155–161.PubMedCrossRefGoogle Scholar
  16. 16.
    Tsochatzis A, Vassilopoulos D, Deutsch M, et al. Angiommunoblastic T-cell lymphoma-associated arthritis. Case report and literature review. J Clin Rheumatol 2005; 11:326–328.PubMedCrossRefGoogle Scholar
  17. 17.
    Roux S, Fermand J-P, Brechignac S, et al. Tumoral joint involvement in multiple myeloma and Waldenstrom’s macroglobulinemia-report of 4 cases. J Rheumatol 1996;23:1175–1178.Google Scholar
  18. 18.
    Fam AG, Rubenstein JD, Cowan DH. POEMS syndrome. Study of a patient with proteinuria, microangiopathic glomerulopathy and renal enlargement. Arthritis Rheum 1986;29:233–241.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC. 2008

Authors and Affiliations

  • Adel G. Fam
    • 1
  1. 1.Department of Medicine,Division of Rheumatology, Sunnybrook & Women’s College Health Sciences CentreUniversity of TorontoTorontoCanada

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