Impact of Lower Limb Lengthening with Telescopic Nails on Functionality and Quality of Life in Patients with Achondroplasia.

Abstract

Introduction: The short stature characteristic of patients with achondroplasia can negatively affect health-related quality of life (HRQoL). Lower limb lengthening reusing telescopic intramedullary nails (TIMNs) offers an alternative to external fixators, with the potential to enhance functionality, self-esteem, and HRQoL, while reducing complication risks, which this study aims to evaluate.

Materials and methods: This retrospective study included nine patients with achondroplasia who underwent parallel transverse lengthening of femurs and/or tibias reusing a TIMN between 2015 and 2022. Functionality (Lower Extremity Functional Scale, LEFS), self-esteem (Rosenberg Self-Esteem Scale), and HRQoL (Short Form-12, SF-12, and EuroQol VAS) were assessed preoperatively and at least two years post-surgery. Complications (Clavien-Dindo-Sink classification) and patient satisfaction were also recorded.

Results: The median age was 13.5 years (IQR: 12.5-17.1), with a significant height increase of +19.9 cm +19.9 cm (p<0.05). Improvements were significant in functionality (LEFS, +4.6 points; p<0.05), self-esteem (Rosenberg, +3.7 points; p<0.05), and HRQoL (SF-12 physical, +8.9 points; p<0.05; EQ-VAS, +20 points; p<0.05). A total of 22 complications were reported in 32 treated bones, most classified as grade 2 or 3B, with no significant correlation to functionality, HRQoL, or self-esteem outcomes (p > 0.05).

Conclusions: Lower limb lengthening reusing TIMNs appears to improve functionality, HRQoL, and self-esteem in patients with achondroplasia compared to their preoperative status. High patient satisfaction and manageable complications were observed, with no negative impact on outcomes, laying the groundwork for future studies. LEVEL OF EVIDENCE Level IV, Retrospective case series.