Late Blooming CF: Unveiling Cystic Fibrosis in Adulthood

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Abstract While cystic fibrosis (CF) is typically identified on newborn screening or during the first few years of life, increased awareness of the heterogeneous manifestations of the disease has led to rising rates of late diagnosis of CF in adulthood. Compared to those diagnosed in childhood, patients diagnosed in adulthood are more likely to present with subtle symptoms or single organ disease, pancreatic sufficiency, and have intermediate sweat testing. We present a case of delayed diagnosis of CF in an adult. A 43-year-old man from El Salvador with no known medical history presented to the Emergency Room with cough, dyspnea, and hemoptysis. His CT chest demonstrated diffuse airway thickening and tree-in-bud micronodularity, bilateral upper lobe bronchiectasis, and patchy consolidations. Initial concern was for pulmonary tuberculosis (TB), and he was started on empiric antibiotics and underwent a TB evaluation. When his sputum culture grew 2 strains of Pseudomonas aeruginosa , however, suspicion turned toward an atypical disease process. On further questioning, he revealed he had always struggled to gain weight, had been unable to father children, and had a chronic productive cough since childhood. On physical exam, he had congenitally absent vas deferens and prominent clubbing. Further testing revealed two pathogenic CFTR gene variants, an abnormal sweat chloride level (>100mmol/L), and a fecal elastase less than 10ug/g. He was diagnosed with CF and referred to a CF clinic where he started therapy. Our patient's classic CT findings, in combination with his chronic respiratory symptoms and infertility, were highly suspicious for CF, prompting further testing. CF is not typically diagnosed in adulthood, often leading to diagnostic delays. CF was not suspected in our patient until his sputum culture resulted; TB was the leading diagnosis based on his travel history. CF patients diagnosed in adulthood tend to have less severe lung disease, pancreatic sufficiency, lower prevalence of P. aeruginosa, and lower prevalence of the ΔF508 mutation. These individuals usually have a CFTR mutation associated with some residual function and may have mild respiratory symptoms in childhood that progress to more serious disease later in life, prompting diagnosis. Delays in diagnosis are also affected by access to healthcare, ability to tolerate symptoms, and implementation of newborn screening. Earlier detection of CF facilitates prompt intervention and improved outcomes, and CF should remain on the differential for adult pulmonologists when confronted with an adult patient with suspicious clinical, microbiological, and radiographic findings.

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