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SAN ANTONIO
MEDICINE

Cystic Fibrosis in Adulthood:

Recognizing a lifelong condition

By John Suder, MD, and Meilinh Thi, DO

The landscape of cystic fibrosis (CF) continues to evolve and is tests only include the common 23 variants largely favoring the identi-
important to recognize. Cystic fibrosis is an autosomal recessive genet- fication of CF in non-Hispanic white infants.2 While CF is typically
ic mutation in the cystic fibrosis transmembrane conductance regula- diagnosed early in life, 831 individuals received this diagnosis after
tor (CFTR) and was historically known as a pediatric illness. Due to the age of 18 in 2000.1 The delayed diagnoses of CF raises important
advancements for early diagnosis and treatment, CF is currently con- questions about adult evaluations for CF and what clinical indicators
sidered an adult disease and requires lifelong and adult-specific care. should prompt physicians to consider this diagnosis in older patients.
In 1970, only 10% of the CF population survived into adulthood with
a median predicted survival of 16 years old.1 According to the 2023 Delayed Diagnosis of Cystic Fibrosis in Adults
CF Foundation Patient Registry, the median survival for those born Many factors contribute to a delayed diagnosis of CF with > 4000
between 2019-2023 is 68 years old and currently 60.4% of patients genetic variants in the CFTR gene, which causes variable phenotypic
are > 18 years old. The demographic evolution highlights the need for presentations. Depending on the combination of genetic mutations,
adult-specific specialized CF centers. phenotypic expression can range from severe disease with resulting
Cystic fibrosis mutations have been included in newborn screen- respiratory failure to mild disease with an asthma-like syndrome. The
ing in the U.S. since 2004 but was not adopted by every state until most common mutation is the F508del variation, which is most prev-
2010, and Texas did not initiate newborn screening for CF until alent among most individuals, but the frequency is lower in the Black
2009. Despite improved screening methods, patients are still being and Hispanic population. The most common genetic test available
diagnosed in adulthood. While newborn screening should allow us may only detect common genetic variants, which has a lower muta-
to detect the disease earlier, there have been concerns raised that the tion detection rate in non-Caucasian patients. Patients that are diag-

32 SAN ANTONIO MEDICINE • June 2025