Thomas Gaisl1, Albina Nowak2,3, Noriane A Sievi4, Nicolas Gerard4, Christian F Clarenbach4, Malcolm Kohler4, Daniel Franzen4. 1. Division of Pulmonology, University Hospital Zurich, Raemistrasse 100, 8091, Zurich, Switzerland. thomas.gaisl@usz.ch. 2. Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich, Zurich, Switzerland. 3. Division of Internal Medicine, Hospital of Psychiatry, University of Zurich, Zurich, Switzerland. 4. Division of Pulmonology, University Hospital Zurich, Raemistrasse 100, 8091, Zurich, Switzerland.
Abstract
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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.
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. METHODS: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. RESULTS: 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. CONCLUSION: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.
Entities:
Keywords:
Epidemiology; Fabry disease; Obstructive sleep apnea; Quality of life
Authors: Jaime Corral; Maria-Ángeles Sánchez-Quiroga; Carmen Carmona-Bernal; Ángeles Sánchez-Armengol; Alicia Sánchez de la Torre; Joaquín Durán-Cantolla; Carlos J Egea; Neus Salord; Carmen Monasterio; Joaquín Terán; M Luz Alonso-Alvarez; Jesús Muñoz-Méndez; Eva M Arias; Marta Cabello; Josep M Montserrat; Mónica De la Peña; José C Serrano; Ferran Barbe; Juan F Masa Journal: Am J Respir Crit Care Med Date: 2017-11-01 Impact factor: 21.405
Authors: R Heinzer; S Vat; P Marques-Vidal; H Marti-Soler; D Andries; N Tobback; V Mooser; M Preisig; A Malhotra; G Waeber; P Vollenweider; M Tafti; J Haba-Rubio Journal: Lancet Respir Med Date: 2015-02-12 Impact factor: 30.700
Authors: Thomas Gaisl; Cecilia Giunta; Daniel J Bratton; Kate Sutherland; Christian Schlatzer; Noriane Sievi; Daniel Franzen; Peter A Cistulli; Marianne Rohrbach; Malcolm Kohler Journal: Thorax Date: 2017-01-10 Impact factor: 9.139
Authors: Robert J Desnick; Roscoe Brady; John Barranger; Allan J Collins; Dominique P Germain; Martin Goldman; Gregory Grabowski; Seymour Packman; William R Wilcox Journal: Ann Intern Med Date: 2003-02-18 Impact factor: 25.391
Authors: C Whybra; C Kampmann; F Krummenauer; M Ries; E Mengel; E Miebach; F Baehner; K Kim; M Bajbouj; A Schwarting; A Gal; M Beck Journal: Clin Genet Date: 2004-04 Impact factor: 4.438
Authors: Matthias Löhle; Derralynn Hughes; Alan Milligan; Linda Richfield; Heinz Reichmann; Atul Mehta; Anthony H V Schapira Journal: Neurology Date: 2015-03-11 Impact factor: 9.910
Authors: Daniel Franzen; Nicolas Gerard; Daniel J Bratton; Annette Wons; Thomas Gaisl; Noriane A Sievi; Christian F Clarenbach; Malcolm Kohler; Pierre A Krayenbühl Journal: Medicine (Baltimore) Date: 2015-12 Impact factor: 1.817