What is the pathophysiology of hemophilia?

Updated: Sep 27, 2019
  • Author: Lars J Grimm, MD, MHS; Chief Editor: Felix S Chew, MD, MBA, MEd  more...
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Answer

Answer

In 1868, the physician Volkmann defined the role of hemorrhage in the pathogenesis of the articular findings in hemophilia. [18] People with one of these bleeding disorders are prone to have recurrent episodes of hemorrhage into the joints. [3] Acute bleeding increases the pressure in the synovial cavity and bone marrow, which possibly leads 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 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. [4] However, practically speaking, the imaging changes that appear first are effusion and synovial proliferation. Damage to the bone and articular cartilage appears later.

Bleeding into target joints (the joints that are most commonly affected with repetitive bleeding in an individual patient) starts before the age of 2 years and persists into adolescence. In some patients, bleeding continues into adulthood, even affecting new target joints after age 30 years; however, this occurrence is unusual. The late sequelae of joint hemorrhage appear in adolescence or adulthood as a joint deformity, contracture, and/or degenerative arthritis.


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