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Excerpt from Hemophilia, Musculoskeletal ComplicationsSynonyms, Key Words, and Related Terms: hemophilic arthropathy, hemophilic soft-tissue bleeding, pseudotumor, hemophilia A, classic hemophilia, factor VIII deficiency, hemophilia B, Christmas disease, factor IX deficiency, bleeding disorder Please click here to view the full topic text: Hemophilia, Musculoskeletal ComplicationsBackground: Hemophilia is the oldest known bleeding disorder. It first came to public attention when the disease appeared in the offspring of Queen Victoria of England (Aronova-Tiuntseva, 2002). Presumably, this disease occurred because of a mutation in one of Queen Elizabeth's X chromosomes. Close intermarriages between European royalty caused the disease to spread from the English royal families to the German, Spanish, and Russian royal families in the 19th and 20th centuries. The mechanism for the bleeding was not known. However, in 1868, the physician Volkmann defined the role of hemorrhage in the pathogenesis of the articular findings in hemophilia (Resnick, 2002).Pathophysiology: The deficiency or absence of either of 2 clotting elements—factor VIII or factor IX—leads to the clinical conditions described as hemophilia A or hemophilia B, respectively. Hemophilia B was formerly known as Christmas disease. In this disease, life-threatening bleeding into the head or the abdomen may occur at any age and is not described in this article. People with one of these bleeding disorders are prone to have recurrent episodes of hemorrhage into the joints. Acute bleeding increases the pressure in the synovial cavity and bone marrow, which leads to severe pain and possibly osteonecrosis or a pseudotumoral mass. Intra-articular bleeding produces a direct chemical effect on the synovium, cartilage, and bone. Over time, the blood becomes deposited in the form of hemosiderin in these tissues. Recurrent hyperemia of the joint in the growing child causes juxta-articular osteoporosis and overgrowth of the epiphysis. Roosendaal and Lafeber studied the pathogenesis of the joint changes in both experimental and clinical cases (Roosendaal, 2003). They found that the articular cartilage is sensitive to the presence of blood and that damage may occur to the cartilage independent of the synovial changes caused by bleeding. However, practically speaking, the imaging changes that appear first are effusion and synovial proliferation. Damage to the bone and articular cartilage appears later. Frequency:
Mortality/Morbidity: The severity of the disease varies.
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