Assessment of Sleep Disturbances and Sleep Disordered Breathing in Primary Immunodeficiency Disorders

Abstract

IntroductionPatients with primary immunodeficiency disorders (PIDD) have lower health related quality of life (HRQoL) compared to the general population. Fatigue is a predominant symptom for PIDD patients and previous publications have demonstrated increased self-reported measures of fatigue in this population, including PROMIS-29 scores. Fatigue is also seen in patients with sleep related disorders including sleep disordered breathing (SDB). Thus, we examined the prevalence of sleep disturbances and SDB in patients with PIDD. MethodsPatients from our institution with a physician-confirmed diagnosis of PIDD were recruited for this IRB-approved study. Patients under 18 years of age, currently pregnant, or with previous diagnosis of SDB were excluded. Patients completed the Pittsburgh Sleep Quality Index (PSQI), Epworth Sleepiness Scale (ESS), Fatigue Severity Scale (FSS), and Patient-Reported Outcomes Measurement Information System (PROMIS) questionnaires via REDCap. Patients then completed a home sleep apnea test (HSAT) using the Watch-PAT One device. ResultsA total of 24 patients with PIDD were enrolled in the study. Median age was 49.4 (range: 22.5–68.7) years, 18/24 (75%) patients were female. 22 out of 24 patients completed the questionnaires. Median values for PSQI, ESS, and FSS were 9.0 (2–18), 7.5 (0–20), and 4.9 (1.0–7.0), respectively. The median PROMIS Fatigue score was 57.9 (33.7–75.8). 14 out of 24 patients completed HSATs at the time of abstract submission. Sleep disordered breathing was defined as having an apnea-hypopnea index (AHI) of 5 events/hour or greater. For patients who completed HSATs, 10 (71%) met the threshold for having SDB. Based on guidelines established by the American Academy of Sleep Medicine, 6 (43%) had mild SDB, 3 (21%) had moderate SDB, and 1 (7%) had severe SDB. ConclusionPatients with an established diagnosis of PIDD, without previously diagnosed SDB, show a higher burden of poor sleep quality, daytime sleepiness, and fatigue based on scoring of self-reported questionnaires as compared to the general population. Overall, these patients were also noted to have a higher burden of sleep disordered breathing. These results provide preliminary evidence that undiagnosed sleep disturbances and SDB may contribute to the increased burden of fatigue in patients with PIDD.