Primary Ciliary Dyskinesia Pulmonary Disease: Current Practice of Physiotherapy Management

Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder of motile cilia. Impaired mucociliary clearance in the lungs leads to sputum retention and recurrent respiratory tract infections. Accordingly, a program of physiotherapy is recommended to these patients with the inclusion of sinonasal irrigation, airway clearance techniques (ACTs), exercise and inhalation therapy. Mostly physiotherapy treatments are extrapolated from Cystic Fibrosis (CF) care, despite a notable difference in the pathophysiology and a limited evidence about them. OBJECTIVES To frame the characteristics of PCD adult patients followed in Verona CF centre and their respiratory physiotherapy treatments. Methods: The study has been performed in April 2019. 49 PCD adults are included in the centre database but 21 of them have not regular follow up visits in 2018. Descriptive analysis was conducted to define the current practice of physiotherapy management. Results: The study sample includes 28 subjects (15 F) with mean age 37 y (13,1), mean BMI 22,1(2,7), 64% of situs inversus, 75% of them have impaired lung function, but only 25% a very severe lung disease. 36% of the subjects received the diagnosis in the adult age. Pseudomonas Aeuroginosa Chronic colonization affects 68% of the sample. Sinonasal irrigation with isotonic saline is prescribed in 82% of cases. ACTs are undertaken by 93% of subjects and include various techniques: with PEP devices (57%), with Oscillatory PEP devices (18%) and Breathing control techniques (ACBT, AD, ELTGOL) (18%). Moderate or vigorous regular physical activity is performed by 19 subjects. The inhalation therapies prescribed includes: bronchodilators (75% short term and 57% long term), antibiotics (25%), hypertonic saline (11%), Dornase Alfa (4%). Conclusions: This study describes the experience of a large Italian centre and our casuistry confirms guidelines indication to physiotherapy management of PCD patients. Clinical practice highlights the need of further studies as multicentre trials in order to identify specific physiotherapy treatment for this disease. It could be important to investigate the effect of different regimens on symptoms, lung function, exercise tolerance, quality of life and adherence.