The prevalence of musculoskeletal pain and therapy needs in adults with Osteogenesis Imperfecta (OI) a cross-sectional analysis

Abstract

Background Osteogenesis Imperfecta affects approximately 1 in every 10,000 people. Musculoskeletal disorders and pain are common in adults with Osteogenesis Imperfecta, but specific knowledge of the problems people have is lacking. Access to therapy services for adults with Osteogenesis Imperfecta is variable. We designed this analysis to better understand the musculoskeletal disorders and consequent therapy needs for adults with Osteogenesis Imperfecta. Methods This study was a cross-sectional analysis of outpatients with Osteogenesis Imperfecta. Adults attending a newly established multidisciplinary clinic at a tertiary centre in 2019 were included. A highly specialist physiotherapist worked within the clinic to offer therapy input if required and to refer patients to appropriate therapy as needed. People over the age of 18 were included if they had a diagnosis of Osteogenesis Imperfecta. Data were collected over a five month period using routinely collected clinical information and patient reported outcomes. Results Over five months 50 patients attended the clinic. Musculoskeletal pain was a significant feature reported by 84% of patients. Over 50% of patients reported persistent pain for longer than one year duration and the most common site of pain was in the spine (46%). No difference in pain between types of OI and age. Forty five per cent (n = 19) of patients reported moderate to severe problems with mobility on the EQ-5D with over half reporting problems with self-care and ability to carry out usual activities. Over 50% of patients in clinic also reported anxiety (EQ-5D). During the consultation 70% of patients received therapy input which was either advice in clinic or an onward referral to the appropriate service. The referral rate to specialist out-patient rehabilitation services at a tertiary centre was 30%. Conclusions This analysis highlights the high prevalence of MSK pain in adults with OI and the effect on physical function and emotional wellbeing. This study demonstrates the diverse needs of the adult Osteogenesis Imperfecta population and the need for suitable multidisciplinary therapy services.

Current situation of osteogenesis imperfecta in Spain: results from a Delphi study

“…Adult patients are more often lost in follow-up and therefore experience worse disease symptoms management. A particular concern is pain, since it limits patients' activities and negatively impacts their quality of life [33][34][35]. Furthermore, there is a low level of consensus regarding the management of adult patients with OI, which is reflected in the lack of specific clinical guidelines.…”

Exploring the relationship between personality and chronic pain in adults with osteogenesis imperfecta: A cross-sectional study

“…However, the data regarding pain frequency align with the findings of similar studies. [7,71] Regarding the variables examined, it would have been interesting to consider participants' emotional responses to pain as indicators of adaptation. These aspects could provide additional insights into the experience of chronic pain and could have enhanced the study's findings.…”

Sensory profiling in classical Ehlers-Danlos syndrome: a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation

“…Transcriptome analysis in mouse models of nerve injury- and inflammation-induced pain have identified ECM organization as an overrepresented molecular pathway [57], and functional and structural abnormalities of the nervous system and pain-related behaviors have been described in mouse models with genetic defects affecting the ECM [2; 3; 15; 78]. Strikingly, pain is highly prevalent in heritable connective tissue disorders (HCTD) caused by monogenic defects in ECM genes, including the Ehlers-Danlos syndromes (EDS) [45; 68; 86] and osteogenesis imperfecta [4], both collagen-related disorders, and Marfan syndrome [85], caused by defects in fibrillin-1. In fact, pain is the reason why many individuals with these conditions seek medical attention.…”