Otologic disease among patients with primary ciliary dyskinesia - an international observational study

ImportanceOtologic disease is common among people with primary ciliary dyskinesia, yet little is known about its spectrum and severity. ObjectiveWe characterized otologic disease among participants with primary ciliary dyskinesia using data from the Ear-Nose-Throat Prospective International Cohort of PCD patients (EPIC-PCD). DesignCross-sectional analysis of baseline cohort data. SettingTwelve specialized primary ciliary dyskinesia centers in 10 countries. ParticipantsWe prospectively included children and adults with primary ciliary dyskinesia diagnoses, routine ENT examinations, and completed symptom questionnaires at the same visit or within 2 weeks. ExposuresPotential risk factors associated with increased risk of ear disease. Main outcomes and measuresWe describe the prevalence and characteristics of patient-reported otologic symptoms and findings from otologic examinations; we identify potential factors associated with increased risk of ear inflammation and hearing impairment. ResultsWe included 397 (211 males) participants with median age 15 (range 0-73). A total of 204 (51%) reported ear pain, 110 (28%) ear discharge, and 183 (46%) hearing problems. Adults reported ear pain and hearing problems more frequently when compared with children. Otitis media with effusion--usually bilateral--from otoscopy was most common among 121 (32%) of 384 participants. Retracted tympanic membrane and tympanic sclerosis were more commonly seen among adults. Tympanometry was performed on 216 participants and showed pathologic type B results for 114 (53%). Audiometry was performed on 273 participants and showed hearing impairment in at least 1 ear, most commonly mild. Season of visit was the strongest risk factor for problems related to ear inflammation (autumn compared with spring odds ratio, 95% confidence interval: 2.4, 1.5-3.8) and age 30 and older of hearing impairment (age 41-50 compared with age 10 years and younger odds ratio, 95% confidence interval: 3.3, 1.1-9.9). Conclusion and relevanceMany people with primary ciliary dyskinesia suffer from ear problems yet frequency varies, highlighting disease expression differences and possible clinical phenotypes. Understanding differences in otologic disease expression and progression during lifetime may inform clinical decisions about follow-up and medical care. We recommend multidisciplinary primary ciliary dyskinesia management includes regular otologic assessments for all ages even without specific complaints. Key PointsO_ST_ABSQuestionC_ST_ABSWhat are the characteristics of otologic disease among patients with primary ciliary dyskinesia (PCD)? FindingsBaseline data from a large multicenter cohort of patients with PCD showed frequent reports of ear pain and reduced hearing with age as the main factor associated with hearing impairment. Otitis media with effusion was the most common otoscopic finding; adults often presented with tympanic sclerosis following history of previous ear infections. MeaningSince otologic disease is an important yet underreported part of PCDs clinical expression, we recommend otologic assessments for all age groups as part of regular clinical follow-up.