Obstructive sleep apnea and quality of life in Fabry disease: a prospective parallel cohort study


Study objectives

Patients with Fabry disease (FD) report impaired quality of life and excessive daytime sleepiness. Obstructive sleep apnea (OSA) is frequently reported among patients with FD; however, its prevalence and its influence on quality of life and daytime sleepiness in this population are unclear.


Patients with FD in a cohort from the University Hospital Zurich (n = 52) were one-to-two matched to healthy adult controls (n = 104) according to age, sex, and body mass index. Participants underwent structured interviews (including Short Form-36) and level-3 respiratory polygraphy. An apnea-hypopnea index of ≥ 5/h was defined as OSA and the severity of FD was quantified with the Mainz Severity Score Index (MSSI). Conditional logistic regression was used to compare the outcomes.


In patients with FD the mean MSSI was 13.3 ± 10.5 points and OSA prevalence was 19.2% vs. 9.0% in the matched control group (p = 0.09). The apnea-hypopnea index was significantly higher in patients with FD than in the control group (0.5/h [0.2–3.0] vs. 0.2/h [0.1–1.8], p = 0.026). OSA severity was associated with impaired quality of life in four dimensions for the whole study population. Furthermore, patients with FD did report significantly higher daytime sleepiness (Epworth Sleepiness Scale 7.6 points vs. 6.3 points; p = 0.01) than healthy controls.


Patients with mild FD do not have a higher OSA prevalence than matched control subjects. Differences in OSA severity did not reach clinical significance. Further studies are warranted to determine the impact of OSA in patients with moderate-to-severe FD.

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Data access, responsibility, and analysis

TG and DF had full access to all the data in the study and take responsibility for the integrity of the data and the accuracy of the data analysis.



Body mass index


Epworth Sleepiness Scale


Fabry disease


Mainz Severity Score Index


Obstructive sleep apnea


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We thank the patients and relatives who gave so much for this study and often traveled long distances in order to participate in this study; without them, this study would not have been possible.

Author information




TG and DF conceived, designed, and analyzed the overall study. TG and NS designed and coordinated the data collection and statistical analysis. TG, NG, DF, and NS assessed the study outcomes. TG and DF undertook the administration of the study. All authors oversaw, contributed, and approved the final manuscript.

Corresponding author

Correspondence to Thomas Gaisl.

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Conflict of interest

Albina Nowak received lecturing honoraria and research support from Sanofi Genzyme and Shire—outside the submitted work. Thomas Gaisl and Malcolm Kohler worked as consultants for Bayer AG—outside the submitted work. All other authors (Noriane A. Sievi, Nicolas Gerard, Christian F. Clarenbach, Daniel Franzen) declare that they have no conflict of interest.

Ethical approval

All procedures performed in this study involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in this study.


All authors have seen and approved the final manuscript. This manuscript does not report on a clinical trial.

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Institution where work was performed: University Hospital Zurich, Switzerland

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Gaisl, T., Nowak, A., Sievi, N.A. et al. Obstructive sleep apnea and quality of life in Fabry disease: a prospective parallel cohort study. Sleep Breath 24, 95–101 (2020). https://doi.org/10.1007/s11325-019-01832-4

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  • Obstructive sleep apnea
  • Fabry disease
  • Quality of life
  • Epidemiology