Osteochondromatosis: clinical variability and factors related to quality of life in children and adults

Introduction. Hereditary osteochondromatosisis an uncommon, autosomal, dominant condition characterized by the presence of multiple bone growths. Objective. To analyze factors associated with health-related quality of life (HRQoL) among children >2 years and adults receiving follow-up at a tertiary care children's hospital in Argentina. Population and methods. Cross-sectional study of a follow-up cohort. HRQoL was measured using the Pediatric Quality of Life Inventory (R) (PedsQL)and the Short Form Health Survey (SF-36). Sex, age, sociodemographic characteristics, height, radiology, axis alteration and limb function, presence of pain, and malignant change were recorded. Severity was classified as per Pedrini et al. Parametric and non-parametric tests and regression analysis were done. Results. A total of 66 cases (47 children and 19 adults) were included. Male/ female ratio: 1.7/1. Median age: 13.4 years (r: 2.21-55.3). Pain was observed in 30/47 children and in 17/ 19 adults. Considering the adult bone age (or epiphyseal closure) as the cutoff point to define adult status, 11/37 children and 18/27 adults had a severe disease and 2/38 children and 9/ 27 adults had short stature. The average value of the physical component of HRQoL in children was 65.9 (SD: 22.5) and, in adults, 27.2 (IQR: 18.5-34.7). The presence of pain and clinical severity were significantly associated with a lower HRQoL, both in children and adults. Conclusions. This study found that pain and disease severity had a negative effect on HRQoL.