Treatment of patients with achondroplasia in the Republic of Croatia – first experiences and results
DOI:
https://doi.org/10.13112/pc.1057Keywords:
ACHONDROPLASIA; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; NATRIURETIC PEPTIDE, C-TYPEAbstract
Achondroplasia (ACH) is an autosomal dominant genetic disorder primarily characterized by disproportionate short stature with normal cognitive development. The average final height of adult males with ACH is 130 cm, while for females, it is 125 cm. Individuals with ACH have an average life expectancy of approximately 10 years shorter than the general population due to complications associated with the underlying condition. The most severe complications that contribute to reduced life expectancy include an increased risk of sudden death in childhood due to potential medullary compression at the craniocervical junction, and in adulthood, cardiovascular diseases, and obesity. Until recently, the treatment of patients with achondroplasia was exclusively symptomatic and did not improve physical capabilities or life quality. Since January 2024, patients with ACH in the Republic of Croatia have started treatment with the drug vosoritide, which targets the cause of the disease, namely the disturbance of enchondral ossification caused by a mutation in the FGFR3 gene. Vosoritide is currently the only specific therapeutic option for treating achondroplasia, developed based on an understanding of the disease pathogenesis, with proven positive effects and an acceptable safety profile.
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