Pulmonary functions and sleep-related breathing disorders in lipid storage disease

• Published in: Sleep & breathing Vol. 22; no. 4; pp. 1137 - 1142
• Main Authors: Bingöl, Züleyha, Tekce, Hacer Durmuş, Sağcan, Gülseren, Serdaroğlu, Piraye, Kıyan, Esen
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.12.2018; Springer Nature B.V
• Subjects: Adult; Apnea; Body Mass Index; Continuous Positive Airway Pressure - methods; Cough; Dentistry; Diaphragm; Dyspnea; Female; Forced Expiratory Volume; Gases; Humans; Hypercapnia; Hypoxemia; Insomnia; Internal Medicine; Lipid Metabolism, Inborn Errors - complications; Lipid Metabolism, Inborn Errors - physiopathology; Lung diseases; Male; Medicine; Medicine & Public Health; Middle Aged; Muscular Diseases - complications; Muscular Diseases - physiopathology; Neurology; Neuromuscular diseases; Otorhinolaryngology; Pediatrics; Pneumology/Respiratory System; Polysomnography; Positive-Pressure Respiration; Pressure; REM sleep; Respiration; Respiratory function; Respiratory Insufficiency - etiology; Sleep apnea; Sleep Apnea, Obstructive - diagnosis; Sleep Apnea, Obstructive - physiopathology; Sleep Breathing Physiology and Disorders • Original Article; Sleep disorders; Storage diseases; Vital Capacity; Lipid storage disease; Neuromuscular disease; Pulmonary functions; Obstructive sleep apnea
• ISSN: 1520-9512; 1522-1709; 1522-1709
• DOI: 10.1007/s11325-018-1647-1

Purpose Pulmonary function abnormalities and sleep-related breathing disorders (SRBD) are frequent in subjects with several neuromuscular diseases but there is no data about lipid storage diseases (LSD). Therefore, we aimed to evaluate pulmonary functions and SRBD in adults with LSD. Methods Pulmonary functions (forced expiratory volume (FEV 1 ), forced vital capacity (FVC), supine FVC, upright-supine FVC% change, maximal inspiratory pressure (MIP), maximal expiratory pressure (MEP), peak cough flow (PCF)), arterial blood gases, and polysomnographic data of all subjects were evaluated. Results Twenty-five subjects with LSD were evaluated [17 males, 8 females; age 34.9 ± 15 years; BMI 26.5 ± 3.4 kg/m 2 ]. MIP was − 72.2 ± 32.7 cmH 2 O (< − 80 cmH 2 O in 13 subjects), MEP was 80.9 ± 39.1 cmH 2 O (< 80 cmH 2 O in 9 subjects, < 40 cmH 2 O in 6 subjects), and PCF was 441.3 ± 190.9 L/min (< 360 L/min in 11 subjects). FVC was 87.8% ± 25.7 and 6 subjects had FVC < 80%. Seven subjects had diaphragm dysfunction (four upright-supine FVC% ≥ 15, three dyspnea in supine position with paradoxical abdominal respiration). Five subjects had hypoxemia (PaO 2 < 80 mmHg) and 8 subjects had hypercapnia (PaCO 2 > 45 mmHg). REM sleep had decreased in all subjects (10.2% ± 6.1). Obstructive sleep apnea (OSA) was found in 80% of the subjects ( n  = 20; 9 mild, 9 moderate, 2 severe). For subjects with OSA, apnea-hypopnea index (AHI) was 20.8 ± 15.9/h, oxygen desaturation index (ODI) was 11.9 ± 15.4/h, AHI REM was 30.6 ± 19.7/h, AHI NREM was 19.7 ± 16.6/h, ODI REM was 27.2 ± 26.1/h, and ODI NREM was 11.4 ± 15/h. Five subjects (20%) diagnosed as REM-related OSA. Nocturnal mean SpO 2 was 94.9% ± 1.7, lowest SpO 2 was 73.3% ± 13.9, and time spent with SpO 2 < 90% was 2.4% ± 7.2. Conclusion In subjects with LSD, pulmonary function impairment, daytime hypercapnia and hypoxemia, and OSA, especially REM-related OSA, are frequent. Therefore, pulmonary functions and polysomnography should be performed routinely.