New paradigms for identifying predisposition to bone injuries in young athletes: Significant keys for rapid diagnostics

Abstract

BACKGROUND

In recent years, many developed countries have implemented prevention programs aimed at introducing the younger generation to regular physical activity and creating a health-promoting sports environment. Of particular importance is prevention of repeated sports bone injuries, which are the main cause of early disability and reduced work capacity in young athletes. An important factor in preventing fractures during physical activity is the early identification of an underlying predisposition to bone injuries, which is associated with connective tissue dysplasia (CTD). At present, the only way to diagnose a predisposition to bone injuries is molecular genetic testing, which identifies mutations in genes encoding CTD components. However, this technique is complex, expensive, and time-consuming, so it is not available for practicing sports physicians and cannot be recommended for rapid screening.

AIM

To identify clinically significant dysplastic signs of predisposition to bone injuries and to assess their diagnostic value in verifying individuals prone to bone damage.

METHODS

This cross-sectional study was performed at Sechenov University in accordance with STROBE guidelines. A total of 538 young adults (18-35 years) involved in sports were examined. Participants were divided into a main group with repeated bone injuries and a control group without such history. Screening for more than 80 dysplastic signs was performed through questionnaires, diagnostic tests, anthropometric and phenotypic assessments, and instrumental studies (esophagogastroduodenoscopy, ultrasound, X-ray examination/computed tomography). Statistical analyses were conducted using StatTech v. 4.8.11 software. Significance was set at P < 0.05.

RESULTS

The results indicated that the dysplastic phenotype in young athletes is characterized primarily by external dysplastic stigmata, with osteoarticular manifestations being the most prevalent. Repeated sports-related bone injuries were observed in 6.7% of young adults involved in mass sports (95% confidence interval [CI]: 4.59%-8.81%). The bone fractures/cracks were more frequently associated with sports involving high mechanical load on bones (wrestling, weightlifting). CTD syndrome plays a significant role in bone re-injury genesis. The dysplastic severity (total CTD score) determines the bone re-injury risk (area under the curve = 0.759; 95%CI: 0.665-0.852, P < 0.001). The level of CTD severity, which indicates a predisposition to bone injuries, was defined as the dysplastic re-injury threshold (DRIT) for bone re-injury incidence. The value of this indicator was 44.2 CTD scores. An approach for identifying predisposition to bone injury based on the total CTD score was established. The dysplastic phenotype of individuals predisposed to recurrent bone injury is characterized predominantly by an asthenic body type, dolichostenomelia, arachnodactyly, chest deformities (pectus carinatum or pectus excavatum), a narrow facial skeleton, and a high-arched (gothic) palate. The most common complaints in this group were paresthesia and muscle spasms/cramps. It was demonstrated that none of the dysplastic features associated with recurrent bone injury is sufficient on its own to identify individuals predisposed to bone injury. However, the presence of each of these characteristic dysplastic features is clinically significant and is associated with a substantially increased risk of bone injury.

CONCLUSION

The high incidence of recurrent bone injuries among young adults participating in recreational sports underscores the importance of its preventive strategies. Screening for connective tissue abnormalities during the initial medical evaluation, with consideration of the characteristic dysplastic features identified in this study, may help identify athletes at increased risk who could benefit from closer monitoring and individualized injury prevention strategies. Determining the DRIT for recurrent bone injury enables early risk stratification and the implementation of targeted preventive measures, supporting personalized strategies to preserve musculoskeletal health in young athletes. The dysplastic phenotype associated with susceptibility to bone injury is characterized by a distinct constellation of dysplastic features that, when considered collectively, may provide the basis for the development of a rapid screening method to identify individuals at increased risk of bone injury.

Keywords: Sports medicine; Bone injuries; Dysplastic re-injury threshold for bone re-injury incidence; Bone re-injury risk; Identifying predisposition to bone injuries; Bone injury prevention; Rapid screening method

Core Tip: Recurrent bone injuries in young athletes may reflect underlying connective tissue dysplasia (CTD) rather than isolated traumatic events. Although individual dysplastic features [e.g., arachnodactyly, chest deformities, and a high-arched (gothic) palate] lack sufficient diagnostic accuracy, their cumulative severity defines a DRIT threshold of 44.2 points on the CTD scale, representing a novel indicator of susceptibility to recurrent bone injury. This threshold enables rapid risk stratification without the need for molecular genetic testing, supporting individualized sports participation and targeted injury prevention strategies. A composite phenotype comprising ten readily identifiable external dysplastic features provides a practical screening tool for sports physicians to identify at-risk athletes and help preserve musculoskeletal health.