Muriel Thomas1, Lydie Lemonnier2, Vincent Gulmans3, Lutz Naehrlich4, François Vermeulen5, Harry Cuppens6, Carlo Castellani7, Aleksandra Norek8, Kris De Boeck5. 1. Registre Belge de la Mucoviscidose - Belgisch Mucoviscidose Register - Belgian CF registry (BMR-RBM), Scientific Institute of Public Health (WIV-ISP), Belgium. Electronic address: Muriel.thomas@wiv-isp.be. 2. Vaincre la Mucoviscidose, France. 3. Dutch CF Foundation (NCFS), The Netherlands. 4. Justus-Liebig-University Giessen, Germany. 5. University Hospital of Leuven, Leuven, Belgium. 6. Center For Human Genetics, University of Leuven, Belgium. 7. Ospedaliera Universitaria Integrata, Verona, Italy. 8. Institute of Mother and Child, Warsaw, Poland.
Abstract
BACKGROUND: Cystic fibrosis (CF) spans a wide spectrum. Therefore, benchmarking between registries implies comparing similar cohorts. OBJECTIVE AND METHODS: Explore patient characteristics in Belgian (B), French (F), German (G) and Dutch (NL) registries (total N=13,122) and determine whether they fulfill predefined diagnostic criteria. RESULTS: Using as case definition sweat chloride >60mmol/L or 2 CFTR mutations identified, CF diagnosis was not documented in 2.8, 5.7, 6.5 and 21.6% of subjects in the F, B, NL, and G registries. Restricting CFTR mutation interpretation to 124 CF causing mutations in CFTR2, these numbers rose to 10.5, 10.4, 14.5 and 24.3% respectively. Excluding these subjects impacted on outcomes. The impact differed between countries; the largest changes seen were a decrease in % adults from 51.9 to 47.8% in G, a decrease in % pancreas sufficiency from 17.0 to 13.0 in F, an increase in % homozygous for F508del from 55.3 to 63.7 in NL and a decrease of % with sweat chloride ≤60mmol/L from 8.4 to 1.1 in B. CONCLUSION: CF diagnosis is not documented in 10 to 24% of patients included in CF registries. Excluding these patients for analyses leads to significant changes in outcomes.
BACKGROUND:Cystic fibrosis (CF) spans a wide spectrum. Therefore, benchmarking between registries implies comparing similar cohorts. OBJECTIVE AND METHODS: Explore patient characteristics in Belgian (B), French (F), German (G) and Dutch (NL) registries (total N=13,122) and determine whether they fulfill predefined diagnostic criteria. RESULTS: Using as case definition sweat chloride >60mmol/L or 2 CFTR mutations identified, CF diagnosis was not documented in 2.8, 5.7, 6.5 and 21.6% of subjects in the F, B, NL, and G registries. Restricting CFTR mutation interpretation to 124 CF causing mutations in CFTR2, these numbers rose to 10.5, 10.4, 14.5 and 24.3% respectively. Excluding these subjects impacted on outcomes. The impact differed between countries; the largest changes seen were a decrease in % adults from 51.9 to 47.8% in G, a decrease in % pancreas sufficiency from 17.0 to 13.0 in F, an increase in % homozygous for F508del from 55.3 to 63.7 in NL and a decrease of % with sweat chloride ≤60mmol/L from 8.4 to 1.1 in B. CONCLUSION: CF diagnosis is not documented in 10 to 24% of patients included in CF registries. Excluding these patients for analyses leads to significant changes in outcomes.