Actualización y revisión del tratamiento en acondroplasia

Abstract

Introduction

Achondroplasia is the most common skeletal dysplasia associated with disproportionate short stature, with an estimated prevalence of 4.6 per 100,000 births. It is caused by a pathogenic variant in the gene encoding fibroblast growth factor receptor 3 (FGFR3), which disrupts endochondral ossification of the growing skeleton.

Objective

To provide an updated overview of the therapeutic approach to achondroplasia, including currently approved treatments and those under investigation.

Content

The approval of vosoritide in 2021 has brought a major shift in the management of these patients. Updated follow-up guidelines have been published, along with initial outcomes in treated patients, with the aim of determining not only the impact on growth and final height but also on associated comorbidities, such as foramen magnum stenosis, and body proportions. We also review other emerging therapeutic strategies currently under development.

Conclusions

The availability of targeted therapies has modified the traditional approach to the management of achondroplasia, which makes ongoing updates on approved and investigational treatments essential.