Characteristics of Otologic Disease Among Patients With Primary Ciliary Dyskinesia

Abstract

ImportanceOtologic disease is common among people with primary ciliary dyskinesia (PCD), yet little is known about its spectrum and severity.ObjectiveTo characterize otologic disease among participants with PCD using data from the Ear-Nose-Throat Prospective International Cohort.Design, Setting, and ParticipantsThis cross-sectional analysis of baseline cohort data from February 2020 through July 2022 included participants from 12 specialized centers in 10 countries. Children and adults with PCD diagnoses; routine ear, nose, and throat examinations; and completed symptom questionnaires at the same visit or within 2 weeks were prospectively included.ExposuresPotential risk factors associated with increased risk of ear disease.Main Outcomes and MeasuresThe prevalence and characteristics of patient-reported otologic symptoms and findings from otologic examinations, including potential factors associated with increased risk of ear inflammation and hearing impairment.ResultsA total of 397 individuals were eligible to participate in this study (median [range] age, 15.2 [0.2-72.4] years; 186 (47%) female). Of the included participants, 204 (51%) reported ear pain, 110 (28%) reported ear discharge, and 183 (46%) reported hearing problems. Adults reported ear pain and hearing problems more frequently when compared with children. Otitis media with effusion—usually bilateral—was the most common otoscopic finding among 121 of 384 (32%) participants. Retracted tympanic membrane and tympanic sclerosis were more commonly seen among adults. Tympanometry was performed for 216 participants and showed pathologic type B results for 114 (53%). Audiometry was performed for 273 participants and showed hearing impairment in at least 1 ear, most commonly mild. Season of visit was the strongest risk factor for problems associated with ear inflammation (autumn vs spring: odds ratio, 2.40; 95% CI, 1.51-3.81) and age 30 years and older for hearing impairment (41-50 years vs ≤10 years: odds ratio, 3.33; 95% CI, 1.12-9.91).Conclusion and RelevanceIn this cross-sectional study, many people with PCD experienced ear problems, yet frequency varied, 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. Multidisciplinary PCD management should be recommended, including regular otologic assessments for all ages, even without specific complaints.

Definition of sinonasal and otologic exacerbation in patients with primary ciliary dyskinesia - an expert consensus

“…Panel members agreed that patients with PCD often underestimate their upper airway symptoms, which are non-specific and to which they grown accustomed over time, highlighting the need to also consider simple signs in the definitions. [4, 7, 55, 56] This was also shown in a recent study from the ENT Prospective International Cohort of PCD Patients (EPIC-PCD) that reported a lack of correlation between sinonasal and otologic symptoms with objective measurements. [57, 58]…”

“…[4–6] From the ears, recurrent episodes of acute otitis media (AOM) often progress to severe bilateral otitis media with effusion (OME) and conductive hearing impairment. [7–11] Acute infections of the nose, sinuses, and ears in PCD, usually involve already impaired upper airways, with a more complicated pathophysiology and course compared to common acute upper airway infections.…”

Association between upper and lower respiratory disease among patients with primary ciliary dyskinesia: an international study

“…We received ethics approval from each participating centre and ethics committee for human research in accordance with local legislation. We obtained informed consent or assent from either participants or parents or caregivers of participants aged ≤14 years as described previously [ 3 , 15 ]. Our reporting conforms with the Strengthening the Reporting of Observational Studies in Epidemiology statement [ 16 ].…”

“…Participants were diagnosed at participating centres following ERS guidelines [ 22 ] as described in previous publications [ 3 , 15 ]. Ultrastructural defects were categorised based on the international consensus guideline for reporting transmission electron microscopy (TEM) results, which defined class 1 (hallmark, namely outer dynein arm defects, outer and inner dynein arm defects and microtubular disorganisation with inner dynein arm defects) and class 2 defects, such as central complex defects [ 23 ].…”

Primary Ciliary Dyskinesia: A Clinical Review

“…While not specific to PCD, the absence of persistent middle ear effusions reduces the likelihood of PCD [ 14 ]. Symptoms include otalgia and often chronic or recurrent otorrhea [ 62 ]. Frequent otitis media leads to significant antibiotic exposure in childhood [ 61 ], and tympanostomy with pressure equalizing tube insertion is frequently pursued.…”