Sinonasal disease among patients with primary ciliary dyskinesia – an international study

Abstract

Background: Although most patients with primary ciliary dyskinesia (PCD) report sinonasal symptoms, little is known about symptom frequency and severity. We describe sinonasal manifestations among PCD patients using data from the Ear, nose, and throat (ENT) Prospective International Cohort of PCD patients. Methods: We included data from participants with routine clinical ENT examinations and complete FOLLOW-PCD symptoms questionnaires from the same visit or within 2 weeks. We compared the prevalence, reported symptoms, and clinical findings among children and adults and identified potential factors associated with increased risk of sinonasal disease using ordinal regression. Results: We included 397 (53% male) participants from 12 centres with median age 15 years (IQR 9–22). Almost all (352; 89%) reported chronic nasal symptoms. More adults (34; 26%) than children (11; 5%) reported anosmia or hyposmia. Among 140 participants who completed SNOT–22 questionnaires, quality of life was moderately affected by sinonasal symptoms (median score 31; IQR 22–45). We observed nasal polyps among 52 (15%) of 352 participants and hypertrophic inferior nasal turbinates among 129 (34%) of 353 participants; facial pain was recorded among 51 (13%) of 353 participants. More adults than children had nasal polyps, hypertrophic turbinates, deviated septum, and facial pain. We found age 10 and older the only factor associated with increased risk of sinonasal disease. Conclusions: Our study reinforces the importance of regular sinonasal evaluations for patients of all ages with PCD and the need for developing evidence-based guidelines for sinonasal treatments as part of overall PCD management.

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] Two components that required long discussions and voting rounds were doctor's decision to treat and the need for improvement of the symptoms and signs.…”

“…Consequently, patients experience recurrent episodes of sinonasal infections, and the risk of sinonasal disease increases with age, with chronic rhinosinusitis (CRS) becoming a common feature as disease progresses. [4][5][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][8][9][10][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 ethical 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 14 years or younger as previously described [3,16]. Our reporting conforms with the Strengthening the Reporting of Observational studies in Epidemiology (STROBE) statement [17].…”

“…Participants were diagnosed at participating centres following ERS guidelines [23] as described in previous publications [3,16]. Ultrastructural defects were categorised based on the international consensus guideline for reporting transmission electron microscopy (TEM) results, which defined class 1 (hallmark, name 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 [24].…”

“…Nearly all patients with primary ciliary dyskinesia (PCD) report chronic nasal problems caused by poor mucociliary clearance, leading to mucus stagnation in upper and lower airways [1][2][3]. Clogged airways facilitate recurrent infections, chronic microbial colonisation, and airway inflammation, leading further to chronic rhinosinusitis (CRS) and bronchiectasis [4,5].…”