Description

The findings of this retrospective, observational study suggest that individuals with achondroplasia experience a range of serious complications throughout their lives. This has resulted in a high levels of healthcare resource needs and reduced quality of life.

LIAISE included 186 children and adults with achondroplasia from 6 European countries. All were aged 5 or older at enrollment and had at least 5 years of medical records. A variety of events were calculated and compared across age groups, as well as by history of limb lengthening. In addition, the study captured patient-reported data on quality of life, pain, functional independence, work productivity, and activity impairment. An exploratory analysis investigated correlations between these and height.

Overall, 94.6% of patients reported at least one medical or surgical complications. These were diverse and occurred in a bimodal distribution – with more frequent complications in the youngest and oldest age groups. These complications translated into a high level of healthcare resource use.

The exploratory analysis found several weak but positive correlations between height and patient-reported outcomes. In some childhood age groups there were positive associations between height and both quality of life and pain; however, there were no significant and meaningful correlations for adults.

The findings from LIAISE provide important insights into the medical experiences of people living with achondroplasia. There are varied approaches to the management of achondroplasia, and a need to ensure high-quality care for all patients across geographical regions.