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CHARACTERIZING THE HEMOPHILIC PSEUDOTUMOR

The term “orthopedie,” first used by Nicholas Andry in 1741, was derived from the Greek-ortho (straight) and puidiu (child)-literally, “to straighten the child.” Hemophilia is one of the most challenging tests the present-day orthopedist is faced with. Musculoskeletal hemorrhage is the most common manifestation of these coagulation disorders. Hemorrhage may occur into three distinct anatomic sites: (1 ) into the joint, with the formation of arthropathy; (2) into the soft tissues, with consequent contracture and/or neuropathy; and (3) into or in proximity to bone, with the formation of a pseudotumor. The latter is the least common lesion, but its formation is most serious as it represents a potential threat to both life and limb. Because of their relative rarity, few physicians have great experience in treating these lesions. Little is known about the basic pathology. This presentation, which is based upon a review of the literature and personal experience with those few cases followed at the Hemophilia Clinic of Mount Sinai Hospital, New York, will attempt to correlate the known pathology, characterize the lesion, and propose a rational plan of therapy. Starker 1 has been generally credited with describing the first pseudotumor, in 1918. Since then over 60 cases have been described. Fernandez de Valderrama and Matthews characterized the pseudotumor as “a progressive cystic swelling involving muscle, produced by recurrent hemorrhage and accompanied by radiographic evidence of bone involvement.” Gunning estimated an incidence of 1 % of severe hemophiliacs. Pseudotumors have been described in the long bones (especially those of the lower extremity), the pelvis, and the small bones of the hands and feet. The femur is the most common site, accounting for slightly over one-third of all reported cases. The pelvis, the next most common site, accounts for slightly under one-third of the cases. The tibia and the bones of the feet account for most of the rest, a few being reported in the hand or at the wrist. The average age at which the patient with a pseudotumor presented for medical care is quite interesting. Most every pseudotumor in the femur and pelvis presented in a mature patient. In contrast, those noted in the small bones of the hand and foot all occurred in the young patient with open epiphyseal growth plates. Even more interesting was the fact that many of the latter patients had or developed multiple pseudotumors, which has not been reported in the older patient with the more proximal lesion. The proximal lesion, as exemplified in the femur, was preceded by a history of trauma and developed over many years. At the hand and foot, trauma was less frequent and the patient sought medical advice within one year. These findings suggested to me that there may be two distinct clinical patterns, and further analysis seemed to confirm this. The large femoral pseudotumor usually presented as a painless expanding mass. A history of trauma may be elicited with slow resolution of a hematoma