Less Common Arthropathies
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.
KeywordsFactor VIII Recombinant Factor VIII Poem Syndrome Hypertrophic Osteoarthropathy Direct Tumor Invasion
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- 10.Perrine SP, Boosalis V. Thalassemia. In: Rakel RE, Bope ET, eds. Conn’s current therapy. Philadelphia: Saunders (Elsevier); 2006:488–492.Google Scholar
- 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