title: Treatment burden in patients with at least one class IV or V CFTR mutation.
abstract: CFTR mutations are grouped according to disease-causing mechanism. Several studies demonstrated that patients having at least one mutation of class IV/V, present with a milder phenotype, but little is known about their relative treatment burden. We compared treatment burden between patients with two class I, II, or III mutations and patients with at least one mutation of class IV/V in the 2010 database of the Belgian CF Registry. We calculated a "Treatment Burden Index" (TBI) by assigning long term therapies to categories low, medium and high intensity, for differential weighing in the total score. There were 779 patients with two known class I/II/III mutations and 94 patients with at least one class IV/V mutation. Compared to class I/II/III, class IV/V patients had a lower median number of clinic visits (4 vs. 5; P < 0.001), a lower risk of hospitalization (24.7% vs. 50.8%; P < 0.001) and intravenous antibiotic treatment (23.5% vs. 46.0%; P < 0.001) and a lower median TBI (6 vs. 9; P < 0.001). These differences remained significant when only class IV/V patients with pancreatic insufficiency (n = 31) were considered. This study clearly demonstrates the significantly lower treatment burden in patients with CF and at least one class IV/V mutation compared to patients with two class I/II/III mutations and contributes to providing better individual counseling at time of diagnosis.
authors.affiliation: Department of Pediatrics, University Hospitals of Leuven, Belgium.
authors.forename: Jonas
authors.initials: J
authors.lastname: Dewulf
authors.affiliation: Department of Pediatrics, University Hospitals of Leuven, Belgium.
authors.forename: François
authors.initials: F
authors.lastname: Vermeulen
authors.affiliation: Scientific Institute of Public Health, on behalf of the Belgian CF Registry, Brussels, Belgium.
authors.forename: Simeon
authors.initials: S
authors.lastname: Wanyama
authors.affiliation: Scientific Institute of Public Health, on behalf of the Belgian CF Registry, Brussels, Belgium.
authors.forename: Muriel
authors.initials: M
authors.lastname: Thomas
authors.affiliation: Department of Pediatrics, University Hospitals of Leuven, Belgium.
authors.forename: Marijke
authors.initials: M
authors.lastname: Proesmans
authors.affiliation: Department of Pulmonology, University Hospitals of Leuven, Belgium.
authors.forename: Lieven
authors.initials: L
authors.lastname: Dupont
authors.affiliation: Department of Pediatrics, University Hospitals of Leuven, Belgium.
authors.forename: Kris
authors.initials: K
authors.lastname: De Boeck
mesh_terms: D000293:Adolescent; D000554:Ambulatory Care Facilities / Q000706:statistics & numerical data; D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003550:Cystic Fibrosis / Q000628:therapy*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004363:Drug Utilization; D005260:Female; D005838:Genotype; D006760:Hospitalization / Q000706:statistics & numerical data; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D016377:Organ Transplantation / Q000706:statistics & numerical data; D012042:Registries; D012138:Respiratory Therapy / Q000706:statistics & numerical data; D012189:Retrospective Studies; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D000900:Anti-Bacterial Agents; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: CFTR; cystic fibrosis; mutation class; treatment burden