Abstract Cystic fibrosis is a monogenic disorder caused by over 2,000 mutations in the CTFR gene, which encodes the chloride ion transport channel across the cell membrane. Mutations are traditionally classified by their mechanistic defect. The most common mutation, F508del, is a class II mutation that causes CTFR protein misfolding and degradation. This genotype typically presents as childhood onset sinopulmonary and gastrointestinal disease; however, phenotypic expression is highly variable depending on the combination of mutations and environmental factors. This case report describes a 39-year-old male with a history of recurrent pneumonia and bronchiectasis since age 36, who was found to have CTFR mutations F508del and R117H-5T. His clinical picture was complicated with alcohol use disorder and likely aspiration events, a 21-pack year smoking history, and occupational exposures during his deployment to Iraq, notably burn pit exposure. The patient denied respiratory problems prior to age 36 and reported no significant childhood illnesses. His family history was non-contributory. Despite multiple courses of outpatient and inpatient antibiotics, he developed necrotizing MSSA pneumonia and worsening cachexia. On subsequent admission, he required intubation, tracheostomy, and PEG placement. At this point he was diagnosed with cystic fibrosis and was transferred for specialized care. His course was complicated with PTSD and anxiety leading to ventilator noncompliance and a cardiac arrest, from which he recovered well. He was treated with meropenem for multidrug-resistant Pseudomonas, steroids, inhaled tobramycin, and elexacaftor/tezacaftor/ivacaftor, with gradual progression toward ventilation liberation. He was evaluated for a lung transplant but was denied due to ongoing nicotine pouch use. This case demonstrates the importance of maintaining a high index of suspicion for cystic fibrosis in a patient with bronchiectasis, even if symptoms can be explained by other comorbidities or exposures. Newborn screening for cystic fibrosis was introduced in the United States in the 1980s and became a nationwide standard in 2009; therefore, the majority of our adult patients have not been screened. Maintaining a low threshold for cystic fibrosis testing in an adult with bronchiectasis might prevent years of inadequate therapy and severe decompensation. This abstract is funded by: None
Wobbema et al. (Fri,) studied this question.