Characteristics and specificities of cystic fibrosis in adults: evolutive disease from childhood or recently discovered disease?

We have studied the characteristics of 202 cystic fibrosis adult patients, all with chronic respiratory symptoms, with a median age of 27 yrs (18 to 5 5 yrs) and a male predominance (56%). At genetic analysis, Delta F508 homoz ygotes were 41%, Delta F508 heterozygotes 42% and 17% had no Delta F508. Th e respiratory disease was more severe and complications were more frequent in adults: hemoptysis in 14%, pneumothorax in 15%, lung transplantation in 25 patients. Chronic bronchial colonisation with Pseudomonas aeruginosa, in 76% of patients, contributed to making treatments more severe because of a ntibiotic IV courses and nebulised antibiotics. Respiratory function showed a mean FVC of 62 +/- 22% and a mean FEVI of 48 +/- 94%. External pancreati c insufficiency was found in 83%, diabetes in 14%. Intestinal occlusion syn droms were observed in 11% of patients and hepatic cirrhosis in 8%. In spit e of the severity of the respiratory disease, theses patients succeeded in social and occupational insertion; 62% were independent, 18% had children a nd 77% were working or studying. Analysis of the patients according to age at diagnosis showed that, in 38 patients diagnosed after the age of 18 yrs, the respiratory disease was less severe, pancreatic insufficiency and non- respiratory complications were less frequent (34% had pancreatic insufficie ncy, 5% had diabetes and none had cirrhosis). This may partly be due to the presence of milder CFTR mutations. In conclusion, cystic fibrosis in adult hood frequently looks like an evolutive form of cystic fibrosis in childhoo d. Nevertheless, some late diagnosed forms in adults, with better prognosis , have been recently identified.