Cystic Fibrosis

Cystic Fibrosis (CF) is a hereditary multi-organ disease caused by pathogenic alterations in the gene of the cystic fibrosis transmembrane conductance regulator (CFTR), a protein which regulates chloride transport in cell membrane. The disease affects mostly the lungs, causing sticky mucus secretions and frequent infections, but also the liver, the pancreas, body growth, etc. In Cyprus, due to high temperatures, about 34% of patients present with severe dehydration and electrolyte disorders as the first symptom of the disease (DOI: 10.1183/13993003.congress-2020.2770).

CF care in Cyprus has been implemented since 1997, after the establishment of a tertiary Pediatric Pulmonology Clinic in the ‘‘Archbishop Makarios III’’ Hospital in Nicosia. The prevalence of CF at birth in Cyprus is around 1 in 8000 live births (DOI: 10.1111/j.1399-0004.2007.00760.x).

DIAGNOSIS

Diagnosis of the disease is based on clinical picture and the results of the sweat test (gold-standard diagnostic tool) and genetic analysis (CFTR genotyping and sequencing), which are performed in collaboration with the Cyprus Institute of Neurology and Genetics.

CLINICAL MANAGEMENT

Patients diagnosed with CF, depending on the severity of clinical manifestations, are followed up at intervals of 1-6 months by the Pediatric Pulmonology Clinic of ‘‘Archbishop Makarios III’’ Hospital. Clinical management involves clinical evaluation/examination, assessment of lung function and exacerbation status, as well as assessment of sputum microbiology. For the clinical management of adult patients we collaborate with the Pulmonology Clinic of Nicosia General Hospital.   Patients are always referred to the physiotherapy department for respiratory physiotherapy evaluation, where they are trained to implement appropriate physiotherapy techniques at home for daily mucus clearance, as a maintenance measure of their respiratory wellbeing and reduction of treatment burden. The implemented physiotherapy techniques by the patients are reviewed at least annually by the physiotherapist. Acute exacerbations are treated with antibiotics (oral, IV, and/or nebulized) according to sputum microbiology results, intensification of chest physiotherapy and additional therapies, if needed. From 2020, CF patients in Cyprus that bear specific mutations receive if indicated add-on novel therapeutic agents that modulate/regulate the function of CFTR protein.

Patients with severe/frequent chest exacerbations may be prescribed with prophylactic antibiotics. For occasional recovery of pseudomonas in the sputum microbiology, we follow state-of-the-art eradication protocols with anti-pseudomonas antibiotics.

Patients with nutritional or growth deficiencies are also referred to the in-house nutritionist for further advice and management. Access to psychological and social support is also provided if required. During hospitalizations for iv treatments, ‘’Archbishop Makarios III’’ hospital follows segregation policies for elimination of bacterial cross-contamination and provides in-house schooling services when required.

INFORMATION FOR PATIENTS

Cystic Fibrosis (CF) is a hereditary multi-organ disease caused by pathogenic alterations in the gene of the cystic fibrosis transmembrane conductance regulator (CFTR), a protein which regulates chloride transport in cell membrane. The disease affects mostly the lungs, causing sticky mucus secretions and frequent infections, but also the liver, the pancreas, body growth, etc. In Cyprus, due to high temperatures, about 34% of patients present with severe dehydration and electrolyte disorders as the first symptom of the disease.