Evaluation of the forearm in untreated adult subjects with multiple hereditary osteochondromatosis

Abstract

Background: Limb-length discrepancy or angular deformities as a result of altered bone growth may lead to a decreased range of motion and impaired function as well as premature osteoarthritis in patients with multiple hereditary osteochondromatosis. The purpose of this study was to describe the function of the forearm in untreated patients in order to facilitate comparison with studies of the results of treatment of this condition.

Methods: The medical records of fifty-one pediatric patients were identified and served as the basis for identifying a cohort of adult relatives with the disorder. Participants were asked about pain and limitations in vocational or recreational activities and about concerns with regard to cosmetic appearance. Radiographs of the forearm and wrist were made to quantify the deformity. Functional outcome was assessed on the basis of a comparison with the norms for grip and pinch strength and for scores on the hand function test of Jebsen et al. Limitations in the range of motion of the upper extremities were converted to standard impairment ratings.

Results: Participants included twenty-two men and seventeen women with an average age of forty-two years (range, twenty to eighty years). Most of the patients were employed in careers of their choice, with only five (13%) indicating that they were limited in any way in the performance of their jobs. Twenty-six subjects (67%) participated in recreational activities, and sixty-eight arms (88%) were reported to be free of pain. Objective measurement of function demonstrated greater disability than that found from subjective reporting. Fourteen arms had an impairment rating of >10%, while twenty had decreased pinch strength and sixteen had decreased grip strength. Ten arms (13%) had decreased hand function according to the hand test of Jebsen et al. Radiographic evaluation demonstrated osteoarthritic changes in three limbs.

Conclusions: Affected individuals had definite decreases in hand and wrist function, yet these did not result in major increases in pain or in limitations in daily work and recreation. This cohort provides a basis for comparison with the results of operative treatment in affected individuals with multiple hereditary osteochondromatosis.