Recommended monitoring protocols for adults with achondroplasia focus on early detection and management of potential complications, particularly musculoskeletal and neurological issues.
Adults with achondroplasia should have regular clinical assessments to monitor for bone and joint disorders, including spinal deformities (such as scoliosis, kyphosis, and lordosis), cervical instability, and joint subluxations, as these are common due to abnormal musculoskeletal development. Referral to specialist orthopaedic or musculoskeletal services is advised if pain, posture changes, or functional impairment occur.
Routine imaging (e.g., X-rays) should not be performed unless the adult is symptomatic with pain or functional/postural changes, to avoid unnecessary radiation exposure.
Bone health monitoring is important because adults with skeletal dysplasias like achondroplasia are at increased risk of low bone mineral density and fractures. Assessment of fracture risk should include evaluation of mobility status, history of falls, BMI, previous low-impact fractures, and medication use that may affect bone health. Dual-energy X-ray absorptiometry (DXA) scans are recommended if two or more risk factors are present or if there is a history of low-impact fracture.
Adults with achondroplasia should also be monitored for neurological complications such as spinal cord compression, which may require specialist neurological assessment.
Mental health should be assessed and addressed alongside physical health, as psychological well-being significantly impacts overall health outcomes.