Pain intensity in patients with genetic metabolic bone diseases: an observational study

Abstract

Objective: The aim of this study was to describe the intensity of the pain in patients with genetic metabolic bone disease and to identify possible risk factors.

Design: Retrospective cohort study.

Setting: The patients were recruited through the outpatient register of the Centre for Rare Skeletal Diseases between 2017 and 2022 from a dedicated orthopedic hospital in northern Italy.

Subjects: All patients with a diagnosis of genetic metabolic bone disease were enrolled. The diagnosis of the pathology was based on the clinical data and the outcome of any genetic tests.

Methods: Pain intensity (0-10) at the first exam was collected and two comparison groups were made: no/ mild pain and moderate/severe pain. Through medical and nursing clinical records, a set of clinical data was collected.

Results: The analysis was performed on 68 patients. The median age was 32.1 years, osteogenesis imperfecta was present in 72.1 % of cases and the median pain score was 2. Logistic regression showed that the independent risk factors of pain were age with a 5 % increase in risk for each year of age (p value = 0.010), a previous surgical intervention (OR = 10.16; CI95%: 2.07-49.89) and the presence of muscle anomalies (OR = 5.91; CI95% 1.09-31.88). The median pain score in the osteogenesis imperfecta group was 1, whereas in the other group it was 2, with a non-significant difference.

Conclusions: In genetic metabolic bone diseases, pain is a relevant symptom. Increased age, surgical intervention and the presence of muscular problems are risk factors in determining higher levels of pain and require targeted treatments.

Keywords: Genetic metabolic bone diseases; Pain; Risk factors.