CORRInsights®: Osteochondritis Dissecans Lesions in Family Members: Does a Positive Family History Impact Phenotypic Potency?

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Excerpt

The etiology and pathophysiology of osteochondritis dissecans (OCD) remains unknown. While we suspect that trauma may have a role in the development of OCD, we also know that many patients with OCD do not have a definable traumatic event, and many of those who do report trauma have a contralateral lesion that cannot be linked to trauma and is frequently asymptomatic [2, 3]. Overuse is also suspected to play a role, but studies examining this role are lacking [1].
The authors note that other studies, particularly those involving twins, support a genetic etiology of OCD. In addition, they note that several syndromes, including some with known genetic linkage, have a higher incidence of OCD as part of their pattern. The authors have provided strong evidence that OCD is a familial disease. Since most familial diseases prove to have a genetic component to their etiology, showing that OCD is familial adds to the evidence that genetics plays a role in the etiology. The authors were unable, however, to show that patients who had a family history had a more severe disease. Such a result would have suggested that the familial incidence was due to genetic causation, as opposed to shared environmental influences. Since their results were negative, we are unable to tell from their data whether the familial incidence they detected is due to environmental influences or is the result of shared genes.
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