The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian Registry

Abstract

Cystic Fibrosis (CF) registries are an essential resource of epidemiological and clinical data. Although the median age at diagnosis is usually reported in the first months of life, a minority of individuals is diagnosed during adulthood. The aim of this study was to describe demographic, genetic, and clinical characteristics of this subgroup of the Italian CF population by using data from the Italian CF Registry (ICFR). Patients ≥18 years at diagnosis were selected and clinical data at diagnosis were analyzed from the 2012–2018 ICFR data (Cohort A). Subjects with diagnosis ≥18 years were selected from 2018 ICFR dataset (Cohort B) to describe their clinical status. In 2012–18 the incidence of late diagnosis was 18.2%, whereas, in 2018, the prevalence of patients diagnosed > 18 years was 12.54%. The median age of late diagnosis was 36.2 years, ranging from 19.0 to 68.3. The male patients were diagnosed because of infertility in the 45.9% of cases. Median sweat chloride value (SCL) was 69 mmol/L (range 9–150). F508del mutation accounted for 28.3% of alleles. A wide variability in respiratory function was present with a median percent predicted Forced Expiratory Volume in the first second (ppFEV1) of 90.8% (range 20–147%). Low prevalence of pancreatic insufficiency (25%) and of Pseudomonas aeruginosa (Pa) infection (17%) suggest a mild CF phenotype in the majority of patients. The assessment of the clinical status in the 2018 dataset and the comparison between genders showed a greater nutritional and respiratory impairment in females. Further studies are needed to clarify the importance of a true diagnostic delay or of late onset of CF symptoms.

Psychological status of mothers of children with cystic fibrosis and primary ciliary dyskinesia

“…In a recent study in Turkey, it was found to be 8.3 years 29 . Children are usually diagnosed with CF in the first months of life with the implementation of CF newborn screening in many countries 30 . In our study, the age at diagnosis of children with PCD was significantly older than children with CF.…”

“…29 Children are usually diagnosed with CF in the first months of life with the implementation of CF newborn screening in many countries. 30 In our study, the age at diagnosis of children with PCD was significantly older than children with CF. The higher depression, burnout, burden, and negative attitudes of mothers of children with CF than mothers of children with PCD may be related to the younger age of children with CF and their greater need for maternal care for all daily practices.…”

Diagnosing Cystic Fibrosis in Adults

“…Data from the Italian CF Registry have been published looking at clinical characteristics of 204 patients diagnosed as adults from 2012 to 2018. 16 They similarly found that patients presented with better nutritional status with only 4.1% of males and 9.4% of females being considered underweight, undoubtedly resulting from a low prevalence of exocrine pancreatic insufficiency of 12.2% in comparison to an estimate of approximately 85% in the overall CF population.…”

“…An Italian study looking at the characteristics of 204 adult-diagnosed patients in the period 2012 to 2018 revealed Phe508del to be the most common genetic variant, but only 3 (1.5%) of the patients were homozygous. 16 In 35% of cases, the genotype combination was CF-causing/CF-causing, but slightly more common was the genotype CF-causing/variant of VCC (36%). In almost 18% of causes, the pathogenicity of the second allele was unknown.…”

“…An analysis of the adult-diagnosed CF population in the Canadian CF Registry revealed that a more timely diagnosis may also have a prognostic impact. 18 Older age at diagnosis was an independent risk factor for death or Gan et al 13 Widerman et al 14 Farley et al 15 Padoan et al 16 The transplantation in a multivariate model. Moreover, a large study using data from the U.S. CF Foundation Patient Registry showed significant improvements in health parameters when adults diagnosed with CF older than 40 years received CF-specific healthcare interventions.…”