Observational study of health utilities in adult primary ciliary dyskinesia patients: preliminary data on associations with molecular diagnosis, clinical phenotype and HRQOL measures

Panayiotis Kouis; Maria G Kakkoura; Stavria Artemis Elia; Phivos Ioannou; Pinelopi Anagnostopoulou; Louiza Potamiti; Maria A Loizidou; Mihalis I Panayiotidis; Kyriacos Kyriacou; Andreas Hadjisavvas; Panayiotis K Yiallouros

doi:10.4081/mrm.2022.881

Observational study of health utilities in adult primary ciliary dyskinesia patients: preliminary data on associations with molecular diagnosis, clinical phenotype and HRQOL measures

Multidiscip Respir Med. 2022 Dec 20:17:881. doi: 10.4081/mrm.2022.881. eCollection 2022 Jan 12.

Authors

Panayiotis Kouis¹, Maria G Kakkoura^{1

2}, Stavria Artemis Elia^{1

3}, Phivos Ioannou⁴, Pinelopi Anagnostopoulou^{1

4}, Louiza Potamiti^{5

6}, Maria A Loizidou^{5

6}, Mihalis I Panayiotidis^{5

6}, Kyriacos Kyriacou^{5

6}, Andreas Hadjisavvas^{5

6}, Panayiotis K Yiallouros^{1

4}

Affiliations

¹ Respiratory Physiology Laboratory, Medical School, University of Cyprus, Nicosia, Cyprus.
² Clinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, UK.
³ Cyprus International Institute for Environmental & Public Health, Cyprus University of Technology, Limassol, Cyprus.
⁴ Pediatric Pulmonology Unit, Hospital 'Archbishop Makarios III', Nicosia, Cyprus.
⁵ Department of Cancer Genetics, Therapeutics & Ultrastructural Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
⁶ Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Abstract

Background: Primary ciliary dyskinesia (PCD) is a congenital disorder characterized by chronic respiratory morbidity. To date, there is no information on PCD-specific preference-based quality of life measures such as health utilities (HU). We cross-sectionally assessed HU in adult PCD patients and explored relationships with genotype, phenotype and quality of life (QOL)-PCD scales.

Methods: Diagnostic testing was performed according to international guidelines, while participants completed the visual analog scale (VAS), time trade off (TTO), standard gamble (SG), and EuroQol 5 dimensions (EQ5D) HU instruments, as well as the QOL-PCD questionnaire. Hierarchical regression was used to identify the QOL-PCD scales that are most predictive of HU.

Results: Among 31 patients, median HU are 0.75 (VAS), 0.86 (EQ5D), 0.91 (TTO) and 0.99 (SG). The underlying genotype is not associated with HU measures. VAS and EQ5D are associated with lung function, while TTO and SG values are not sensitive to any of the examined factors. Among the QOL-PCD scales, physical functioning and lower respiratory symptoms explained much of VAS (R²= 0.419) and EQ5D (R²= 0.538) variability.

Conclusions: Our study demonstrates that HU elicitation in PCD is feasible using both direct and indirect methods. Overall, HU scores are relatively high among adult patients, with higher scores observed in SG and TTO, followed by EQ5D and VAS. VAS and EQ5D HU values are sensitive to lung function as well as to QOL-PCD physical functioning and lower respiratory symptom scores.

Keywords: Primary ciliary dyskinesia; health utilities; quality of life; rare disease.

Grants and funding

Funding: The study acknowledges support by the EU 7th Framework Program EC-GA No. 305404 BESTCILIA. Authors also participate in the BEAT-PCD Clinical Research Collaboration, supported by the European Respiratory Society.