ArticleOrphanet journal of rare diseases2025
Body composition, anthropometry, and resting energy expenditure in adults with achondroplasia: a pilot study to determine best practices.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundTo guide recommendations for preferable body weights and energy requirements in those with achondroplasia, particularly given concern for overweight and obesity, studies of body composition, energy utilization, and health outcomes must be conducted in those with this rare (1 in 20,000-30,000 births) condition. We compared body composition using bioelectrical impedance analysis (BIA) and anthropometry against dual energy X-ray absorptiometry (DXA) as a gold standard and characterized resting energy expenditure (REE) among adults with achondroplasia in a pilot study of the feasibility and validity of these approaches and describe implications of their use in this population.
methodsTwenty adults (9 female, 38.5 ± 6.3 years; 11 male, 35.1 ± 10.4 years) with achondroplasia were recruited for a week-long study with an overnight inpatient component to assess the feasibility of conducting tests of health, physical activity, and function. Body composition was assessed using anthropometry, tetrapolar BIA, and DXA under standardized conditions. REE was assessed in the morning in a fasted, resting state and expressed relative to whole body mass and fat free mass. Aspects of body composition were compared by sex using t-tests, and total body fat, percent body fat, and fat free mass by BIA were compared to DXA by linear regression and Bland-Altman analysis.
resultsHeight, weight (although ~ 9 kg greater in males), fat free mass (FFM; by DXA or BIA), waist, hip, arm and neck circumference, and REE did not differ by sex; body mass index, total and percent body fat, triceps, subscapular, and arm fat area were greater in females while arm muscle area was greater in males. By DXA, fatness of the extremities was greater in females. Estimates of total and percent body fat were similar by DXA and BIA in both sexes combined and were strongly related to waist circumference.
conclusionsIn achondroplasia, BIA and key anthropometric indicators could assess excess adiposity. We found REE to be appropriate for body size, suggesting that weight control might be dependent on improved fitness and activity levels in this population. Comprehensive assessment of body composition in relation to health outcomes in a larger achondroplasia cohort is required.
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