How should I approach the management of a patient with achondroplasia who presents with obesity-related complications?

Approach to managing a patient with achondroplasia presenting with obesity-related complications:

• Comprehensive assessment: Begin with a thorough assessment of the degree of overweight or obesity using appropriate anthropometric measures, considering that standard BMI interpretation may be challenging in achondroplasia due to altered body proportions. Assess central adiposity using waist-to-height ratio, aiming for a ratio under 0.5 to reduce health risks.
• Identify and manage comorbidities early: Screen for obesity-related complications such as type 2 diabetes, hypertension, dyslipidaemia, and liver function abnormalities. Investigations should include blood pressure, lipid profile, fasting glucose and insulin, liver and endocrine function tests, interpreted in the context of the patient’s obesity severity and achondroplasia-related factors.
• Tailored behavioural interventions: Offer behavioural overweight and obesity management interventions that are adapted to the patient’s physical limitations and individual needs, including dietary advice and physical activity plans that accommodate skeletal differences and mobility challenges.
• Specialist referral: Refer to specialist obesity management services or multidisciplinary teams experienced in managing complex cases with skeletal dysplasia and obesity-related comorbidities for more intensive support and possible pharmacological or surgical options if appropriate.
• Ongoing support and monitoring: Provide long-term follow-up to support weight maintenance, monitor comorbidities, and adjust management plans as needed, recognising that obesity is a chronic condition requiring sustained intervention.

This approach ensures early identification and management of complications, personalised care considering achondroplasia-specific challenges, and integration with specialist services to optimise outcomes.

References: ¹,²