A CASE REPORT ON THE USE OF TRIKAFTA ON A PREGNANT PATIENT WITH CYSTIC FIBROSIS

SESSION TITLE: Genetic and Developmental Disorders Case Report Posters 1 SESSION TYPE: Case Report Posters PRESENTED ON: 10/09/2023 12:00 pm - 12:45 pm INTRODUCTION: Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulators, such as Elexacaftor-Texacaftor-Ivacaftor (Trikafta), have revolutionized the management of CF care through aiding the defective CFTR proteins [3]. As the survival rates of adult population patients with CF increase, there is more importance given to pregnancy and family planning. Trikafta has led to increased rates of fertility in female patients with CF as it improves pulmonary function and decreases exacerbations [2]. Here we present a case of a pregnant patient with CF and advanced lung disease on Trikafta. CASE PRESENTATION: A 24 year old female with CF (mutation = F508del/F508del) presented to clinic in September 2022 expressing desire for pregnancy. Baseline FEV1 is 48%. Other past medical history relevant for meconium ileus resulting in short guy syndrome, pancreatic insufficiency, and CFLD. Patient has been sexually active since the beginning of 2020 with irregular use of condoms for contraception. She began treatment with Trikafta in August 2020. Her medications were shifted to consider the pregnancy and was started on azithromycin, Cayston, and weaned off sertraline. In January 2023, an 8w1d pregnancy was confirmed on ultrasound, and patient began prenatal visits and partner CF carrier testing. In March 2023, patient was admitted for 11 days for CF exacerbation and tested positive for COVID and human metapneumovirus while continuing on her home medications and treated with meropenem, colistin, and linezolid with pyridoxine. Patient symptomatically improved and antibiotics were discontinued at discharge. DISCUSSION: Subfertility in women with CF is very common, especially in those with GI manifestations as seen in our patient [3]. Women with CF are less likely to use contraception than those without CF as up to 50% of pregnancies in women with CF are unplanned. The rate of pregnancies in women with CF, especially considering the increasing fertility in patients on Trikafta, makes it important for providers to counsel on contraception and pregnancy planning to benefit pregnancy outcomes [1]. As seen in this case, it is vital to individualize management of CF care during pregnancy. CONCLUSIONS: Our case highlights the importance of utilizing an individualized approach to benefit maternal health during pregnancy. There should be an informed discussion to the patient on the risks and benefits of Trikafta and CF management prior to pregnancy. Although research still needs to be conducted on the safety of Trikafta and its long-term effects, there is value in its role in increasing fertility in women with CF. Overall, this case reaffirms the significance of more proactive contraceptive and pre-pregnancy planning to optimize pregnancy outcomes in patients on Trikafta. REFERENCE #1: Ashcroft, A., Chapman, S. J., & Mackillop, L. (2020). The outcome of pregnancy in women with cystic fibrosis: A UK population‐based Descriptive Study. BJOG: An International Journal of Obstetrics & Gynaecology, 127(13), 1696–1703. https://doi.org/10.1111/1471-0528.16423 REFERENCE #2: Gur, M., Pollak, M., Bar-Yoseph, R., & Bentur, L. (2023). Pregnancy in cystic fibrosis—past, present, and future. Journal of Clinical Medicine, 12(4), 1468. https://doi.org/10.3390/jcm12041468 REFERENCE #3: Shteinberg, M., Taylor-Cousar, J. L., Durieu, I., & Cohen-Cymberknoh, M. (2021). Fertility and pregnancy in cystic fibrosis. Chest, 160(6), 2051–2060. https://doi.org/10.1016/j.chest.2021.07.024 DISCLOSURES: No relevant relationships by Madihah Alam Advisory Committee Member relationship with PARI Please note: 2019 by Nauman Chaudary, value=Honoraria Moderator relationship with PARI Please note: 2021 by Nauman Chaudary, value=Consulting fee Advisory Committee Member relationship with DYMEDSO Please note: 2021 by Nauman Chaudary, value=Consulting fee No relevant relationships by Karen Lo