Body composition, muscle strength and hormonal status in patients with ataxia telangiectasia: a cohort study

H Pommerening, S van Dullemen, M Kieslich, R Schubert, S Zielen, S Voss, H Pommerening, S van Dullemen, M Kieslich, R Schubert, S Zielen, S Voss

Abstract

Background: Ataxia-telangiectasia (A-T) is a devastating human autosomal recessive disorder that causes progressive cerebellar ataxia, immunodeficiency, premature aging, chromosomal instability and increased cancer risk. Affected patients show growth failure, poor weight gain, low body mass index (BMI), myopenia and increased fatigue during adolescence. The prevalence of alterations in body composition, muscle strength and hormonal status has not been well described in classical A-T patients. Additionally, no current guidelines are available for the assessment and management of these changes.

Methods: We analyzed body composition, manual muscle strength and hormonal status in 25 A-T patients and 26 age-matched, healthy controls. Bioelectrical impedance analysis (BIA) was performed to evaluate the body composition, fat-free mass (FFM), body cell mass (BCM), extracellular matrix (ECM), phase angle (PhA), fat mass (FM) and ECM to BCM ratio. Manual muscle strength was measured using a hydraulic hand dynamometer.

Results: The BMI, FFM and PhA were significantly lower in A-T patients than in controls (BMI 16.56 ± 3.52 kg/m(2) vs. 19.86 ± 3.54 kg/m(2); Z-Score: -1.24 ± 1.29 vs. 0.05 ± 0.92, p <0.001; FFM 25.4 ± 10.03 kg vs. 41.77 ± 18.25 kg, p < 0.001; PhA: 4.6 ± 0.58° vs. 6.15 ± 0.88°, p < 0.001). Manual muscle strength was significantly impaired in A-T patients compared with controls (10.65 ± 10.97 kg vs. 26.8 ± 30.39 kg, p < 0.0001). In addition, cortisol and dehydroepiandrosterone sulfate (DHEAS) levels were significantly lower in A-T patients than in controls.

Conclusion: Altered body composition, characterized by depleted BMI, PhA and BCM; by the need to sit in a wheelchair; by altered hormone levels; and by poor muscle strength, is a major factor underlying disease progression and increased fatigue in A-T patients.

Trial registration: ClinicalTrials.gov NCT02345200.

Figures

Fig. 1
Fig. 1
Phase angle α values in A-T patients (n = 25) and healthy controls (n = 26). The A-T patients showed significantly lower α-values than did the healthy controls; p < 0.001
Fig. 2
Fig. 2
Fat free mass in A-T patients (n = 25) and healthy controls (n = 26). The A-T patients showed significantly lower FFM compared to the healthy controls; p < 0.001
Fig. 3
Fig. 3
The ECM/BCM ratios of A-T patients (n = 12) and healthy controls (n = 14). The normal ECM/BCM ratio is below 0.8 for males and below 0.9 for females. The ECM/BCM ratios were significantly elevated in all patients; p < 0.001
Fig. 4
Fig. 4
Cortisol levels in patients with A-T (n = 15) and healthy controls (n = 17). Hormone levels were measured in the ≥12 years of age group. The A-T patients showed significantly lower cortisol levels than did the healthy controls; p < 0.05
Fig. 5
Fig. 5
DHEAS levels in patients with A-T (n = 15) and healthy subjects (n = 17). Hormone levels were measured in the ≥12 years of age group. DHEAS levels were significantly lower in the A-T patients than in the healthy controls; p < 0.05

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