Cystic fibrosis diagnosed in adult patients

Abstract

Aim. To review the presentation, diagnosis and long-term, clinical follow-up of cystic fibrosis in adult patients diagnosed in adulthood at Green Lane Hospital. Methods. A retrospective review of the case notes of patients with cystic fibrosis diagnosed in adulthood at Green Lane Hospital or referred there for management. Information was collected on diagnostic tests, including sweat tests and genotyping. Relevant family history was documented as were spirometry results and microbial colonisation. Results. Six patients conclusively fulfilled the diagnostic criteria for cystic fibrosis. There was a wide range of ages at diagnostic (18-68) and half of the patients had a positive family history. A single mutation was identified in all, but in only one of the cases was the second mutation identified. All patients had evidence of bronchopulmonary suppuration and all had retained pancreatic function. Colonisation with P aeruginosa was associated with marked impairment in lung function. Conclusion. The patients at Green Lane Hospital represent part of the broad-spectrum disease in adult patients diagnosed with cystic fibrosis and highlight the differences between this group and those patients diagnosed in childhood with the more classical phenotype. Patients generally have less severe lung disease and retain pancreatic function. Sweat testing is useful diagnostically but gene testing is of limited value in making the diagnosis.