Description

The natural history of skeletal complications of achondroplasia (ACH) is well-described, however it remains unclear how rates of non-skeletal complications and mortality, surgical procedures, and healthcare needs differs between individuals with ACH and the general population. This study aimed to contextualise differences in these outcomes by comparing rates across the lifespan, between individual with achondroplasia and matched controls in a UK population. Searches using national UK databases such as the Clinical Practice Research Database (CPRD) GOLD, Hospital Episode Statistics (HES) and the Office of National Statistics and disorder-specific Read Codes or International Classification of Diseases 10^th Revision codes (for ACH cases) were performed.

A total of 541 ACH cases and 2052 controls were identified for the CPRD cohort and of these 275 cases and 1064 matched controls had linkage to HES data. The results highlight that those with ACH have higher rates of a range of both skeletal and non-skeletal complications across their lifespan.  Approximately twice as many non-skeletal complications were reported among individuals with ACH versus controls. To manage these complications, individuals with ACH have significantly increased healthcare needs compared with the general population.

This study identifies the need for more coordinated and multidisciplinary management of people with ACH to improve health outcomes across their lifespan.