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  • Title: What is the Proportion of Patients With Multiple Hereditary Exostoses Who Undergo Malignant Degeneration?
    Author: Czajka CM, DiCaprio MR.
    Journal: Clin Orthop Relat Res; 2015 Jul; 473(7):2355-61. PubMed ID: 25582066.
    Abstract:
    BACKGROUND: Multiple hereditary exostoses is an autosomal-dominant skeletal disorder that has a wide-ranging reported risk of malignant degeneration to chondrosarcoma. QUESTIONS/PURPOSES: The aims of our study were to use a large, web-based survey approach to characterize (1) the demographic distribution of patients with multiple hereditary exostoses, (2) the number of surgeries performed related to one's diagnosis of multiple hereditary exostoses, and (3) the proportion of survey respondents who described experiencing malignant degeneration in a large international, heterogeneous cohort of patients with multiple hereditary exostoses. METHODS: An anonymous web-based survey was distributed to several online support groups and social media networks designed to support and educate patients with multiple hereditary exostoses and their families. The survey collected demographic and epidemiologic data on 779 respondents. Data were recorded to assess respondents' disease burden and the rate of malignant degeneration. RESULTS: Females represented a slightly greater proportion of those with multiple hereditary exostoses who responded (56% female; 419 of 742 patients). Median age for all respondents was 28 years (range, < 1-85 years). Median age for males was 25 years (range, < 1-85 years), while median age for females was 29 years (range, < 1-82 years). The mean age at diagnosis of male and female respondents was in the mid-first decade (5.4 years ± 7.2 years). The mean number of surgeries a patient had undergone was 7.3 (± 7.1 surgeries). The proportion of respondents who experienced malignant transformation was 2.7% (21 of 757 respondents), at a mean age of 28.6 years (± 9.3 years). The most common sites of malignant change from benign exostoses included the pelvis (eight of 21 respondents) and scapula (four of 21 respondents). CONCLUSIONS: In the largest and most geographically diverse study of patients with multiple hereditary exostoses of which we are aware, we found the proportion of patients with multiple hereditary exostoses who have undergone malignant degeneration to be consistent with those reported in prior studies. Our study perhaps more accurately assessed the proportion of patients who undergo malignant transformation of multiple hereditary exostoses. As with prior studies on this topic, the proportion of malignant change may be expected to represent a high-end estimate as recruitment and selection bias likely predisposes for patients with more severe disease, whereas patients with lesser disease may be unaware of their diagnosis. In discussing the sequelae of multiple hereditary exostoses, clinicians perhaps might use this study to offer an unspecific statement of risk of malignant degeneration of multiple hereditary exostoses among the population at large. LEVEL OF EVIDENCE: Level IV, prognostic study.
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