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

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

Orphanet Journal of Rare Diseases 2015, 10 :155 (9 December 2015)

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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 and S. Voss

*Corresponding author: H. Pommerening h.pommerening@gmx.de

Author Affiliations

Children’s Hospital, Allergology, Pneumology and Cystic Fibrosis, Goethe-University Theodor-Stern Kai, Frankfurt/Main, Germany

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Orphanet Journal of Rare Diseases 2015, 10:155 doi:10.1186/s13023-015-0373-z

The electronic version of this article is the complete one and can be found online at:http://www.ojrd.com/content/10/1/155

Received:	14 September 2015
Accepted:	2 December 2015
Published:	9 December 2015

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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.