Overlooked symptoms, uncommon tests can complicate diagnosis of cystic fibrosis in adults

Because newborn screening was not widely adopted in the United States until a little more than a decade ago, physicians are seeing a growing subset of patients diagnosed with cystic fibrosis (CF) as adults. With the advent of highly effective cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy, it is more important than ever that pulmonologists have an understanding of currently available testing modalities and diagnostic algorithms for CF and CFTR-related disorders.

During the session, Is This CF? What Every Pulmonologist Should Know About Diagnosing CF in the Age of CFTR Modulators, on Sunday at 1:00 pm CT, a panel of expert clinicians will describe the typical and atypical CF phenotypes and CFTR-related disorders in adults and discuss diagnostic strategies using the most current tests and genetic panels.

“For decades, we thought of cystic fibrosis as being a pediatric illness because most people didn’t live long enough for it to become an adult illness, but today, there are actually more adults alive with CF than children, and people with CF are living into their 40s, 50s, and even their 60s,” said session chair Holly Keyt, MD, FCCP, Associate Professor and Associate Director of the Adult Cystic Fibrosis Program at the University of Texas Health Science Center at San Antonio.

According to Dr. Keyt, people with CF are living longer in large part due to newly available CFTR modulator therapies, which target the essential defect of CF at the cellular level and have been shown to improve symptoms, quality of life, and lung function in the majority of people with CF.

“Because we have these highly effective therapies available now, it’s imperative that pulmonologists be aware of how to recognize the symptoms of CF in their adult patients and be able to accurately diagnose and treat them,” Dr. Keyt said.

Adults who are diagnosed with CF have likely had mild symptoms for many years—symptoms that are often overlooked, Dr. Keyt said, because these patients do not have what are considered classic symptoms, such as pancreatic dysfunction, severe sinusitis, or severe bronchiectasis.

“Some adults will have what just seems like annual bronchitis or some mild constipation or mild sinusitis,” she said.

Diagnosing cystic fibrosis can be challenging, she said, because it relies on very specific testing, such as a sweat test or a CF gene mutation panel, which are not commonly ordered and not typically encountered by pulmonologists in their daily practice.

“This session is a great opportunity for clinicians to review the nuts and bolts of how to recognize the atypical presentations of CF, how to get those diagnostic studies ordered, and how to interpret them,” Dr. Keyt said. “We will also be talking about the impact on patients who are diagnosed with CF, how to best support them, and the information that we need to have available for them at the time of diagnosis.”

This session is supported in part by a scientific and educational support grant from Vertex Pharmaceuticals Incorporated.