A descriptive study of patients diagnosed with cystic fibrosis or a CF-related disorder in adulthood.

BACKGROUND

A significant number of patients are not diagnosed with cystic fibrosis (CF) until adulthood when they have already sustained organ damage.

METHODS

We reviewed the medical records of all CF patients at our Centre who were diagnosed in adulthood to characterise the clinical features and investigation of this group of patients.

RESULTS

Of 370 patients at our CF Centre 49 (13.2%) were diagnosed in adulthood at a mean age of 42 (18-71) years. The main prior diagnosis was bronchiectasis. Disease severity was less than that of typical CF patients; mean FEV1 was 68% (range11-123%) predicted and only 17 (35%) had pancreatic insufficiency; 46 (94%) had at least one variant detected on the standard 50-variant gene assay suggesting that this is a useful initial test, but extended testing was needed to identify 20 rare variants; 47 (97%) had variants treatable by CF modulator drugs. A further 24 (6.4%) patients were diagnosed with a CF-related disorder as sinusitis, pancreatitis, diabetes, or male infertility.

CONCLUSIONS

Accurate diagnosis of CF and CF-related disorders by clinical assessment, sweat tests and gene testing provides an explanation of the patient's symptoms, has implications for reproductive choices and allows specific treatment including CF modulator drugs.