Purpose: The aim of the study was to evaluate quality of life (QOL), global health status, pain, and level of satisfaction in patients with hereditary multiple exostoses (HME), and to correlate the association between the severity of diseases and age, sex, number of surgical procedures, and number of exostoses. Methods: The data of 50 patients with HME were retrospectively evaluated and recorded. QOL was evaluated with the Short-Form Health Survey (SF-12) questionnaire, the 12-Item General Health Questionnaire (GHQ-12), and Quality of Life Enjoyment and Satisfaction Questionnaire (Q-LES-Q-SF); intensity of pain was measured using the visual analogue scale (VAS). The association of age, gender, pain, quality of life, number of exostoses, and number of surgical procedures were evaluated and correlated. Results: Mean number of exostoses in our patient’s cohort resulted 18.12 ± 8.60, and every patient underwent to a mean of 5.62 ± 5.74 surgical procedures for the exostoses. Mean VAS resulted 5.16 ± 2.90. Considering SF-12, mental (MCS) and physical (PCS) component resulted, respectively, 45.36 ± 10.76 and 38.73 ± 11.09, while GHQ-12 and Q-LES-Q-SF were 15.48 ± 4.70 and 45.28 ± 9.55, respectively. We found a significant positive correlation between the number of exostoses and the number of surgical procedures (p < 0.001), a significant positive correlation between the number of surgical procedures and GHQ-12 (p = 0.422) and VAS (p = 0.0011), and a negative correlation between the number of surgical procedures and PCS (p = 0.0257) and between age and GHQ-12 (p = 0.0385). Conclusions: We can conclude that HME impact on patient quality of life as measured by the MCS and PCS scores similar to the disability associated with osteoarthritis in the mental component and tumors or diabetes as regards the physical component. Moreover, we found no difference in patients’ quality of life as regards number of exostoses, age, and surgical procedure, but we found that women have a worse response as regards the psychological side than men.
- Global health status
- Hereditary multiple exostoses
- Quality of life
- Rare disease
- Surgical procedure
ASJC Scopus subject areas
- Orthopedics and Sports Medicine