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

• Published in: European journal of medical genetics 2023-11, Vol.66 (11), p.104850-104850, Article 104850
• Main Authors: Onesimo, Roberta, Sforza, Elisabetta, Bedeschi, Maria Francesca, Leoni, Chiara, Giorgio, Valentina, Rigante, Donato, De Rose, Cristina, Kuczynska, Eliza Maria, Romeo, Domenico Marco, Palmacci, Osvaldo, Massimi, Luca, Porro, Matteo, Gonfiantini, Michaela Veronika, Selicorni, Angelo, Allegri, Anna, Maghnie, Mohamad, Zampino, Giuseppe
• Format: Article
• Language: English
• Subjects: Achondroplasia; Acute pain; Chronic pain; European reference network; Skeletal dysplasia
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2023.104850

The clinical features of achondroplasia can cause acute self-limited pain that can evolve 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 striking features of achondroplasia.