Endocrine Abstracts

Introduction: Achondroplasia, caused by a variant in the fibroblast growth factor receptor 3 (FGFR3) gene is the most common form of disproportionate short stature. It is associated with reduced life expectancy, but it is not clear to what extent cardiovascular disease (CVD) is responsible for this. As such, the primary aim of this systematic review was to identify the prevalence of cardiovascular disease in individuals with this condition.

Methods: A systematic review of the literature was conducted by 2 independent reviewers using PUBMED and Science Direct. There were no language or date restrictions on the search and the search was completed in March 2024. The search strategy consisted of the following terms: “achondroplasia” AND “vascular” OR “cardiovascular” OR “metabolic”. Studies had to meet the following criteria for inclusion: report on population with achondroplasia and consider at least one assessment of clinical or laboratory measurement of cardiovascular risk or vascular phenotype. Quality assessment was undertaken using the Critical Appraisal Skills Programme checklists according to study type.

Results: In total 300 articles which met the inclusion criteria were screened. Of these, 31 (10%) were included for analysis with publication dates ranging from 1972-2023, encompassing >5,000 individuals with achondroplasia. Techniques of cardiovascular assessment included measures of adiposity in 11 (35% of included studies), metabolic parameters in 10 (32%), blood pressure in 8 (26%), physical activity in 5 (16%) and mortality secondary to CVD in 3 (10%) demonstrating increased rates of obesity, impaired glucose regulation and hypertension. Five (16%) studies considered the effects of sleep disordered breathing on CVD risk.

Discussion: There is significant heterogeneity in the outcomes measured to assess CVD risk in people with achondroplasia. As a result, there remains significant gaps in the literature regarding the development of CVD in individuals with this condition. Longitudinal studies offering detailed cardiovascular phenotyping should be considered in people with achondroplasia in order to mitigate the risks of CVD-related morbidity and mortality.