Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies

Autor: Virginia Fano, Chong A. Kim, Pablo Rosselli, Regina El Dib, Renée Shediac, Tatiana Magalhães, Debora Mesojedovas, Juan Llerena
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-28 (2022)
Druh dokumentu: article
ISSN: 1750-1172
DOI: 10.1186/s13023-021-02142-3
Popis: Abstract Background Achondroplasia (ACH), the most common form of disproportionate short stature, is caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene. Recent advances in drug therapy for ACH have highlighted the importance of elucidating the natural history and socioeconomic burden of this condition. Recognition that there are many potential issues for the patient with ACH is the first step in planning cost-effective interventions in Latin America (LATAM), a vast geographic territory comprising countries with multicultural characteristics and wide socioeconomic differences. We conducted a systematic literature review to characterize the impact of ACH on affected individuals and on healthcare resources in LATAM countries. Methods Searches of the global medical literature as well as regional and local medical literature up to August 2020. Observational studies on patients with ACH from any LATAM country. Pairs of reviewers independently screened eligible articles, extracted data from included studies, and assessed their risk of bias. Results Fifty-three unique studies (28 case series and cross-sectional studies and 25 case reports) including data on 1604 patients were eligible. Of these studies, 11 had data available for meta-analysis. Both premature mortality and all-cause mortality in the pooled studies was 15% [95% Confidence Interval (CI) 1.0E−3 to 0.47; I2 = 82.9%, p = 0.0029; three studies, n = 99 patients]. Frequency of cardio-respiratory-metabolic disorders was 17% [95% CI 0.04–0.37; I2 = 90.3%, p
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