Respiratory symptoms of Swiss people with primary ciliary dyskinesia

Myrofora Goutaki, Leonie Hüsler, Yin Ting Lam, Helena M Koppe, Andreas Jung, Romain Lazor, Loretta Müller, Swiss PCD Research Group, Eva S L Pedersen, Claudia E Kuehni, Myrofora Goutaki, Leonie Hüsler, Yin Ting Lam, Helena M Koppe, Andreas Jung, Romain Lazor, Loretta Müller, Swiss PCD Research Group, Eva S L Pedersen, Claudia E Kuehni

Abstract

Background: Mostly derived from chart reviews, where symptoms are recorded in a nonstandardised manner, clinical data about primary ciliary dyskinesia (PCD) are inconsistent, which leads to missing and unreliable information. We assessed the prevalence and frequency of respiratory and ear symptoms and studied differences by age and sex among an unselected population of Swiss people with PCD.

Methods: We sent a questionnaire that included items from the FOLLOW-PCD standardised questionnaire to all Swiss PCD registry participants.

Results: We received questionnaires from 74 (86%) out of 86 invited persons or their caregivers (median age 23 years, range 3-73 years), including 68% adults (≥18 years) and 51% females. Among participants, 70 (94%) reported chronic nasal symptoms; most frequently runny nose (65%), blocked nose (55%) or anosmia (38%). Ear pain and hearing problems were reported by 58% of the participants. Almost all (99%) reported cough and sputum production. The most common chronic cough complications were gastro-oesophageal reflux (n=11; 15%), vomiting (n=8; 11%) and urinary incontinence (n=6; 8%). Only nine (12%) participants reported frequent wheeze, which occurred mainly during infection or exercise, while 49 (66%) reported shortness of breath, and 9% even at rest or during daily activities. Older patients reported more frequent nasal symptoms and shortness of breath. We found no difference by sex or ultrastructural ciliary defect.

Conclusion: This is the first study to describe patient-reported PCD symptoms. The consistent collection of standardised clinical data will allow us to better characterise the phenotypic variability of the disease and study disease course and prognosis.

Conflict of interest statement

Conflict of interest: M. Goutaki reports support for the present manuscript received from the Swiss National Science Foundation, and is co-chair of the BEAT-PCD ERS clinical research collaboration and chair of the ERS paediatric epidemiology group, outside the submitted work. The remaining authors have nothing to disclose.

Copyright ©The authors 2022.

Figures

FIGURE 1
FIGURE 1
Prevalence and frequency of upper respiratory and ear symptoms by age group among Swiss participants with primary ciliary dyskinesia (n=74).
FIGURE 2
FIGURE 2
Prevalence and frequency of lower respiratory symptoms by age group among Swiss participants with primary ciliary dyskinesia (n=74).
FIGURE 3
FIGURE 3
Frequency of upper respiratory and ear symptoms by age (in years) among Swiss participants with primary ciliary dyskinesia. Each dot represents one patient. The density of dots corresponds to how many people within the same age range reported a symptom of equal frequency (daily, often, sometimes, rarely or never).
FIGURE 4
FIGURE 4
Frequency of lower respiratory symptoms by age (in years) among Swiss participants with primary ciliary dyskinesia. Each dot represents one patient. The density of dots corresponds to how many people within the same age range reported a symptom of equal frequency (daily, often, sometimes, rarely or never).

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Source: PubMed

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