How pain affect real life of children and adults with achondroplasia: a systematic review

Roberta Onesimo, Elisabetta Sforza, Mf Bedeschi, Chiara Leoni, Valentina Giorgio, Donato Rigante, C De Rose, Em Kuczynska, Domenico Marco Romeo, Osvaldo Palmacci, Luca Massimi, M Porro, Mv Gonfiantini, A Selicorni, A Allegri, M Maghnie, Giuseppe Zampino

Research output: Contribution to journalArticle

Abstract

The clinical features of achondroplasia can cause acute self-limited pain that can develop into chronic pain. Pain causes a low quality of life, in terms of physical, emotional, social, and school functioning in both adult and children with achondroplasia. We conducted a systematic review according to the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) statement to describe prevalence, assessment tools, causes and management strategies of pain in this rare disease. We found that shoulder and knee pain is typically referred during infancy, while knee pain is generally referred around 5-6 years of age. The prevalence of general pain in adolescence can be as high as 90%. Chronic pain in the achondroplasia population increases with age, with up to 70% of adults reporting general pain and back pain. Recognizing the multiple determinants of acute and chronic pain in patients with achondroplasia may enable physicians to better understand and manage this burden, particularly with the advent of new drugs that may modify some of the known features of achondroplasia.
Original languageEnglish
Pages (from-to)1-9
Number of pages9
JournalEuropean Journal of Medical Genetics
Volume2023
DOIs
Publication statusPublished - 2023

Keywords

  • Achondroplasia

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