6533b825fe1ef96bd1282738

RESEARCH PRODUCT

Primary ciliary dyskinesia in adults with bronchiectasis: Data from the Embarc registry

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Introduction: Primary ciliary dyskinesia (PCD) is an inherited cause of bronchiectasis where defects in motile cilia result in failure to clear mucus. Individuals have life-long productive cough and recurrent infections Methods: The embarc registry is a prospective pan-European observational study of adults with bronchiectasis. Data entered into the registry between March 2015 and Jan 2018 was assessed. Disease severity in PCD was compared to two age and gender matched cohorts, the first consisting of individuals with immune deficiency and a second with idiopathic disease. Results: 287/11204 individuals (2.6%) were reported to have PCD. 65% were female, reflecting the female predominance in the total embarc cohort (60%); Individuals with PCD were significantly younger than others in the registry, 49 years (stdev ±16.2) vs 65yrs(14.6). Individuals with bronchiectasis due to PCD had increased disease severity, measured by bronchiectasis severity index 7.5 (±4.9) when compared to age and gender matched cohorts with idiopathic disease 5.7 (±5.2) or immune deficiency 5.9 (±4.7). Analysis of components contributing to the BSI score revealed an average 10% reduction in FEV1% predicted (PCD 65.0(23.2) vs Immune 74.4(24.0) or Idiopathic 75.3(24.3)) and increased incidence of pseudomonas isolation from sputum in PCD patients (46%) when compared to other groups (Immune deficiency 16%, Idiopathic 18%). Conclusion: A typical PCD patient presents to the bronchiectasis clinic younger than their counterparts. When patient age is accounted for, bronchiectasis due to PCD is more severe than idiopathic bronchiectasis or disease due to an immune deficiency. Supported by EU/EFPIA IMI iABC grant agreement no 115721