Management of achondroplasia in Latin America: patient and physician perspectives

Achondroplasia is the most common form of short-stature skeletal dysplasia. Individuals with achondroplasia need care from many health professionals throughout their lives to improve their health and maximize quality of life. This article provides an overview of the Latin American and international guidelines for healthcare of individuals with achondroplasia and includes the authors’ perspectives as patient advocacy group leaders and physicians on how to apply these guidelines in the real world. In our experience, healthcare gaps in many Latin American countries include a lack of access to certain specialists and facilities, such as pediatric neurosurgeons, sleep study centers, and magnetic resonance imaging. Other gaps include a lack of specialists who treat adults with achondroplasia and restricted access to diagnostic genetic testing. We recommend addressing these gaps in healthcare through improved funding for diagnostic services, specialized medical reference centers, and training of healthcare providers. We also recommend establishing national registries to collect observational, real-world medical records data of individuals with achondroplasia, to improve future treatments and health outcomes and guide healthcare policies. Finally, we recommend increased collaboration between individuals with achondroplasia, patient advocacy groups, healthcare professionals, and national health departments, to improve awareness of the needs of the achondroplasia community.