Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Roma, Italy.
Università Cattolica Del Sacro Cuore, Rome, 00168, Italy.
Eur J Med Genet. 2023 Nov;66(11):104850. doi: 10.1016/j.ejmg.2023.104850. Epub 2023 Sep 26.
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.
成骨不全症的临床特征可引起急性自限性疼痛，进而发展为慢性疼痛。疼痛可导致成骨不全症患者（包括成人和儿童）的生活质量下降，表现在身体、情感、社交和学校功能方面。我们根据系统评价和荟萃分析的首选报告项目（PRISMA）声明进行了系统综述，以描述这种罕见疾病中疼痛的发生率、评估工具、原因和管理策略。我们发现，肩部和膝关节疼痛通常在婴儿期出现，而膝关节疼痛通常在 5-6 岁左右出现。青少年的一般性疼痛发生率可高达 90%。成骨不全症患者的慢性疼痛随年龄增长而增加，高达 70%的成年人报告有一般性疼痛和背痛。认识到成骨不全症患者急性和慢性疼痛的多种决定因素，可能使医生更好地理解和管理这种负担，特别是随着可能改变成骨不全症一些显著特征的新药的出现。
