Sinonasal features in patients with Primary Ciliary Dyskinesia - an EPIC-PCD study

Abstract

<b>Background:</b> Most patients with primary ciliary dyskinesia (PCD) have sinonasal symptoms, but yet little is known on their frequency and severity. We aimed to describe sinonasal features in PCD patients using data from the Ear-nose-throat (ENT) Prospective International Cohort of PCD patients (EPIC-PCD), a multicentre observational clinical cohort. <b>Methods:</b> We included patients who had a routine ENT clinical examination and completed the FOLLOW-PCD standardised symptoms questionnaire at the same visit. We compared reported symptoms and clinical findings in children and adults. <b>Results:</b> We included 208 patients (108 males) with median age 16 years (range 0-63). 178 (86%) patients reported chronic nasal symptoms that in 73 (35%) persisted. Specifically, 116 (56%) reported blocked nose, and 129 (62%) rhinorrhoea. 18 of 72 adults reported anosmia compared to only 3 of 136 children. 133 (64%) patients reported headaches, which in 26 appeared when bending down. Clinical examination showed blocked nose in 88 (42%) patients. Nasal mucosa was evaluated in 190 patients and showed erythema in 64 and oedema in 61. 32 of 182 patients had nasal polyps (19 adults and 13 children) and 66 of 174 had hypertrophic turbinates. The Sinonasal Outcome Test-22 was available for 57 patients with a moderate median score of 39 (range 4-86), that did not differ by age. <b>Conclusion:</b> The EPIC-PCD is the largest prospective cohort describing sinonasal features in PCD patients. Sinonasal symptoms are common in PCD patients, which underlines the need of ENT input in the multidisciplinary care. Sinonasal disease worsens with age as more adults present with nasal polyps and have impaired sense of smell. <b>Funding:</b> SNF PZ00P3_185923