Author(s)
Waleed Abuzeid, MD
Judd Fastenberg, MD
Changeun Song, MD
Christina Fang, MD
Paul Mohabir, MD
Peter Hwang, MD
Affiliation(s)
Montefiore Medical Center / Albert Einstein College of Medicine
Abstract:
Introduction: Cystic fibrosis (CF) patients commonly develop chronic rhinosinusitis (CRS). The impact of the most common Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) mutation, F508del, on the severity of sinonasal disease remains inconclusive. The objective of this study is to evaluate the impact of CF genotype on sinonasal disease phenotype as determined by various outcome variables.Methods: Retrospective chart review of patients with CF who underwent endoscopic sinus surgery for chronic rhinosinusitis from 1998 to 2015. Patients were divided into two groups on the basis of homozygosity for the F508del CFTR mutation versus heterozygosity for F508del and a combination of two non-F508del CFTR mutations. The primary outcome was the 22-item Sino-Nasal Outcome Test (SNOT-22) score. Secondary outcomes included endoscopic scores, extent of surgery performed, presence of polyposis, and Lund-MacKay computed tomography (CT) scores. Results: Twenty-seven patients were homozygous for F508del and 22 had either heterozygosity for F508del or non-F508del mutations. The latter group was termed non-homozygous. On bivariate analysis, the homozygous cohort had significantly higher CT scores (p=0.037), but significantly better preoperative psychologic (p=0.043) and sleep subdomain scores (p=0.048) than their non-homozygous counterparts. These relationships were not maintained to a statistically significant level after adjusting for age and gender on multivariate linear regression analysis. There was no association between F508del homozygosity and sinonasal endoscopy scores. Conclusions: Homozygosity for the F508del mutation in CRS patients, when compared to non-homozygous forms of CF, is not associated with sinonasal disease outcome measures after adjusting for confounding factors.