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

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.

Retrospective cohort study.

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.

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.

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.

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.

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.