IMPLICATIONS IN DIAGNOSING CYSTIC FIBROSIS IN AN ELDERLY WOMAN

Abstract

SESSION TITLE: Medical Student/Resident Genetic and Developmental Disorders Posters SESSION TYPE: Med Student/Res Case Rep Postr PRESENTED ON: October 18-21, 2020 INTRODUCTION: Cystic fibrosis (CF) is the most common lethal genetic disease for Caucasians and is typically a diagnosis of young children, and is rare to be diagnosed in adults, let alone new diagnosis in those greater than 80 years of age. The majority of new diagnoses are made on newborn screening tests, however cystic fibrosis should still be considered in adults who have a family history, hemoptysis, chronic pansinusitis, productive cough, and bronchiectasis. CASE PRESENTATION: DS is an 85 year old female with history of esophageal achalasia, but no prior history of recurrent infections, sinus disease or pulmonary symptoms who presented to pulmonary clinic for evaluation of several months of a non-productive cough. A CT scan showed right middle lobe bronchiectasis with surrounding tree in bud infiltrates. She completed treatment for presumed bronchitis with ciprofloxacin and azithromycin without a change in her symptoms. A repeat chest xray showed progression of right middle lung infiltrates. She had no high risk epidemiologic factors for tuberculosis, so the initial concern was for nontuberculous mycoplasma or silent aspiration pneumonitis given esophageal achalasia. She had a bronchoscopy showing copious secretions and a bronchoalveolar lavage culture grew burkholderia gladioli. She completed 2 weeks of levofloxacin with initial improvement, but shortly after noticed recurrence of symptoms. She had been using incentive spirometry, percussive therapy and bronchodilators without significant changes, however was able to hike in Colorado and relatively asymptomatic from pulmonary perspective aside from a chronic cough. A sweat chloride test was notable for a value > 60mmol/L concerning for a diagnosis of cystic fibrosis. Genetic studies were positive for 2 CFTR gene mutations, pathogenic variant c.3144T>G and variant of unknown significance c.125C>T. She was informed and discussed the following with her 3 children and relatives. At this time, she has elected to avoid future treatment given minimal symptoms. DISCUSSION: Although our patient did not pursue treatment, the diagnosis of CF has important implications for her family. CF is inherited in an autosomal recessive pattern, so knowledge of family members carrying the trait becomes a factor in regards to family planning. Those with CF have described shorter life spans, personal health, and potential impact of CF on a child as factors to consider during family planning. Genetic testing assists with family planning, as each CFTR genetic mutation can present differently, and is an important factor when considering emerging therapies that target defective CFTR proteins with promising results. CONCLUSIONS: In conclusion, despite CF being primarily a diagnosis discovered in infancy or early childhood, the importance of keeping CF in the differential in older adults presenting with bronchiectasis has consequences for their families and future children. Reference #1: Osullivan, B. P., & Freedman, S. D. (2009). Cystic fibrosis. The Lancet, 373(9678), 1891–1904. doi: 10.1016/s0140-6736(09)60327-5 Reference #2: Moskowitz, S. M., Chmiel, J. F., Sternen, D. L., Cheng, E., Gibson, R. L., Marshall, S. G., & Cutting, G. R. (2008). Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. Genetics in medicine: official journal of the American College of Medical Genetics, 10(12), 851–868. https://doi.org/10.1097/GIM.0b013e31818e55a2 Reference #3: Traxler, S. A., Chavez, V., Hadjiliadis, D., Shea, J. A., Mollen, C., & Schreiber, C. A. (2019). Fertility considerations and attitudes about family planning among women with cystic fibrosis. Contraception, 100(3), 228–233. doi: 10.1016/j.contraception.2019.05.005 DISCLOSURES: No relevant relationships by Katie Adib, source=Web Response No relevant relationships by Vincent Esguerra, source=Web Response No relevant relationships by Stephen Kirkby, source=Web Response No relevant relationships by Nihal Patel, source=Web Response