Energy balance in adults with achondroplasia

Individuals with achondroplasia, the most common short stature skeletal dysplasia, have a 10‐fold greater risk of cardiovascular disease (CVD) mortality and a 10 year reduction in median survival compared to those of average stature. Obesity, a risk factor for CVD, is prevalent in achondroplasia. We assessed aspects of energy balance in healthy achondroplasia adults as part of a study of CVD risk factors. Energy intake was assessed by 3 day food record, resting energy expenditure (REE) by indirect calorimetry, and activity energy expenditure (AEE) by accelerometry for 5 days, placed at the wrist. Three of 20 planned subjects (1 F, 2 M), 34–44 years of age, have completed the study. Weight was 63.4 ± 6.1 kg, and height was 131.2 ± 3.6 cm. For each subject, respectively, mean daily energy intake was 1617, 1502, 1945 kcals, 33.3 ± 5.2% from fat. REE was 1274, 1164, 1235 kcals, and mean daily AEE was 1178, 698, 1045 kcals. Consistent with self reported activity logs, 7–17% of time assessed by accelerometry was spent in moderate‐vigorous activity. Data thus far suggest an energy imbalance favoring weight loss, but caloric intake is likely underreported and accelerometry may overestimate true AEE. Validation of accelerometry is ongoing. Measures were well tolerated, and data will guide treatment recommendations for this population. Support: Greenberg Center for Skeletal Dysplasias, Johns Hopkins GCRC/ICTR