This year, the 27-year-old patient returned again with the same upper respiratory symptoms, and was found to have decreased oxygen saturation. A chest x-ray revealed diffuse reticular opacities. A chest CT revealed predominantly upper-lobe bronchiectasis, with diffuse tree-in-bud opacities (Fig. 4). Although the patient did not have gastrointestinal complaints, transient intussusception of the small bowel was noted as well as dilation and severe fecal impaction within the large bowel (Fig. 5A). The pancreas was diffusely atrophic and showed marked fatty replacement (Fig. 5B). With continued abnormal liver lab results, he received subsequent testing for alpha-1 antitrypsin deficiency and sputum for tuberculosis, both of which were negative.
In worsening condition, our patient recently provided sputum for gram stain and culture. The gram stain showed gram-positive cocci in pairs, chains, and clusters, as well as gram-negative bacilli. The culture grew Pseudomonas fluorescens, a rare bacterium documented in immunosuppressed individuals. Immunofixation analyses also showed increased levels of immunoglobulin G, sometimes associated with chronic infection.
It is clear that our patient suffers from an adult-onset form of CF, with elevated sweat chloride level and no known CFTR mutation. To this day, our patient's condition deteriorates, and he remains with no documented diagnosis of CF. Insurance coverage for diagnostic testing generally follows nationally established health guidelines, which are designed to identify the disease in the vast majority of cases. However this strategy excludes coverage for new clinical profiles such as atypical CF, late-onset CF, and CF not testing positive against standard mutation and sweat chloride analyses.
27-year-old African-American male with late-onset cystic fibrosis. Axial views of contrast-enhanced reformatted chest CT. A) Localized dilation of the bronchi reveals upper-lobe bronchiectasis (arrow). Peribronchial cuffing demonstrates extent of inflammation and mucous impaction.