What are the health considerations for a 27-year-old female (F) with a history of achondroplasia?

From the Guidelines

A 27-year-old female with achondroplasia should prioritize regular monitoring by a multidisciplinary team, focusing on potential complications like spinal stenosis, sleep apnea, and weight management to maintain quality of life and prevent morbidity and mortality. The patient's care should include genetic counseling, transition to adulthood, psychosexual well-being, and management of pregnancy, as pregnancy carries increased risks including respiratory complications and potential C-section delivery 1. Regular hearing and dental evaluations are necessary due to increased risk of ear infections and dental crowding, and mental health support should be available to address potential psychosocial challenges 1. Weight management is crucial, as obesity can worsen orthopedic issues and sleep apnea, and a healthy lifestyle with emphasis on physical activity and healthy eating should be encouraged 1. Specific medications aren't typically required for achondroplasia itself, but pain management may include standard analgesics for musculoskeletal pain, and vosoritide (Voxzogo) is not indicated for adults 1. Some key considerations for the patient's care include:

• Regular monitoring of body composition throughout adult life to establish within-patient reference values and detect excess adiposity 1
• A healthy diet and regular physical activity to maintain a healthy weight and prevent obesity-related complications 1
• Screening for sleep apnea with polysomnography and CPAP therapy if diagnosed 1
• Regular follow-ups with specialists in skeletal dysplasia to monitor potential complications and maintain quality of life 1

From the Research

Health Considerations for a 27-year-old Female with a History of Achondroplasia

• Potential medical complications associated with achondroplasia include:
  • Foramen magnum stenosis
  • Hydrocephalus
  • Middle ear dysfunction
  • Obstructive and central sleep apnea
  • Spinal stenosis
  • Genu varum 2
• Sleep-disordered breathing is a common issue in individuals with achondroplasia, with studies showing that:
  • 47.7% of children with achondroplasia have abnormal initial polysomnography study results, usually caused by hypoxemia 3
  • 54.3% of children with achondroplasia have obstructive sleep apnea (OSA) 4
  • OSA has been linked to raised intracranial pressure and neurocognitive deficits in children 4
• Surgical interventions for OSA in children with achondroplasia have shown:
  • Adenotonsillectomy can lead to significant improvement in OSA symptoms 5, 6
  • Multilevel surgical intervention may be required in some cases 5
  • Cervicomedullary decompression (CMD) can also lead to an improvement in OSA symptoms 6
• It is essential to recognize that treatment with vosoritide, a CNP analogue, does not negate the necessity of actively surveilling for potential complications of achondroplasia, which are part of its natural history 2