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Observational Study
. 2024 May;33(5):1323-1334.
doi: 10.1007/s11136-024-03604-4. Epub 2024 Mar 8.

Health-related quality of life and associated risk factors in patients with Multiple Osteochondromas: a cross-sectional study

Manila Boarini #  1 , Morena Tremosini  1 , Alessia Di Cecco  1 , Maria Gnoli  1 , Evelise Brizola  1 , Marina Mordenti  1 , Elena Pedrini  1 , Manuela Locatelli  2 , Marcella Lanza  1 , Diego Antonioli  3 , Giovanni Gallone  3 , Gino Rocca  3 , Eric L Staals  4 , Giovanni Trisolino #  3 , Luca Sangiorgi  1
Affiliations
Observational Study

Health-related quality of life and associated risk factors in patients with Multiple Osteochondromas: a cross-sectional study

Manila Boarini et al. Qual Life Res. 2024 May.

Abstract

Purpose: To evaluate the health-related quality of life and associated risk factors for Multiple Osteochondromas patients.

Methods: A cross-sectional, observational study was conducted from May to December 2022 during the routine visit to the referral center for rare skeletal disorders. All patients with Multiple Osteochondromas aged ≥ 3 years were included. EuroQol 5-dimension questionnaires, and demographic, clinical, and surgical history data were collected. Descriptive statistics, Fisher's exact test, One-sample t-test, Spearman's correlation, and multiple linear and logistic regression were performed to analyze the data. Results are reported following STROBE guidelines.

Results: A total of 128 patients were included in the study, with a mean age of 14 [SD, 10] years. The mean EQ-5D Index Value was 0.863 [SD, 0.200] and the EQ-VAS was 84 [SD, 19] with a positive correlation between two scores [r = 0.541, p < 0.001]. Patients frequently referred problems in pain/discomfort [78.8%], anxiety/depression [50%], and usual activities [38.8%] dimensions. Increasing age was the common risk factor for health-related quality of life [p < 0.000], as well as Index Value and VAS scores were significantly lower in surgical patients [p = 0.001 and p < 0.001, respectively].

Conclusion: Increasing age and surgical procedures were found highly associated with reduced health-related quality of life in Multiple Osteochondromas patients. Our findings provide relevant information to support the establishment of patient-centered healthcare pathways and pave the way for further research into medical and non-medical therapeutic strategies for these patients.

Keywords: HRQoL; Healthcare pathway; Multiple Osteochondromas; PROs; Rare disease; Skeletal dysplasia.

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Conflict of interest statement

ELS reports advisory board direct payments for consultation from Daiichi Sankyo and Deciphera Pharmaceuticals, outside the submitted work. All other authors declare no competing interests.

Figures

Fig. 1
Fig. 1
The Rizzoli multiple osteochondromas classification. A visual representation of the three MO classes [37]
Fig. 2
Fig. 2
Flowchart of MO patients included in the study
Fig. 3
Fig. 3
Correlation between EQ-5D Index Value and EQ-VAS
See this image and copyright information in PMC

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