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SAN ANTONIO
MEDICINE

nosed as adults typically complain of chronic respiratory problems and • Reproductive issues
frequently have milder lung disease, less frequent Pseudomonas colo- » Congenital bilateral absence of vas deferens: This leads to
nization, and increased frequency of pancreatic insufficiency. Unfa- obstructive azoospermia and infertility, therefore patients with
miliarity of the full spectrum of phenotypic presentations may delay infertility with absent vas deferens should be evaluated.
recognition and ultimately a proper diagnosis.1 • Bone disease
Multiple organ systems beyond the lung and gastrointestinal tract » Osteoporosis/Osteopenia: Common in CF due to multiple
are also frequently affected. Patients presenting with symptoms in factors including malabsorption and chronic inflammation.
other organ symptoms can easily go unrecognized. Some examples of
atypical presentations include chronic sinusitis, chronic or recurrent Cystic fibrosis care centers specialize in the evaluation and manage-
pancreatitis, or infertility due to congenital bilateral absence of the vas ment of CF to include minimizing disease progression, preventing and
deferens (CBAVD). While the diagnosis of CF may be more obvious treating exacerbations, and reducing complications to support those
in symptomatic patients with multiple organ system involvement, the living with CF to live longer, healthier lives. Multidisciplinary clinic
diagnosis of CF may not be as clear in patients with isolated organ teams provide a clinical environment that is difficult to obtain outside
involvement. Patients with CBAVD can be particularly challenging as of a care center. The teams include many disciplines including nurses,
many patients do not exhibit other features of CF, but 50 to 60% of dieticians, respiratory therapists, social workers and pharmacists, pal-
them will have at least one CF mutation.1 liative care, gastroenterologists, endocrinologists and pulmonologists.
The standard initial test for CF is sweat chloride testing but results This team-based approach is unique and designed to meet the health-
can vary depending on the severity of the mutations. The spectrum of care needs of those living with CF. If a diagnosis of CF is suspected,
results of sweat testing includes normal (≤ 29 mmol/L), borderline patients should be referred to an accredited CF center for evaluation.
(30 -59 mmol/L) and positive (≥ 60 mmol/L). A borderline sweat test
requires genetic analysis for confirmation. There is no gold standard References:
for routine molecular genetic testing and patients should be evaluated 1. Cystic Fibrosis Adult Care: Consensus Conference
at an accredited CF center to receive appropriate and comprehensive Report. Yankaskas, James, et al. 125, 2004, CHEST, pp. 1S-39S
testing.3 2. Cystic Fibrosis Newborn Screening: A Systematic Review-Driven
Consesus Guideline from the United States Cystic Fibrosis Foun-
Signs and Symptoms Suggestive of Cystic Fibrosis in Adults dation. McGarry, Meghan, et al. 24, 2025, Internation Journal of
Despite milder or atypical presentations, several signs and symp- Neonatal Screening, Vol. 11
toms should prompt physicians to consider a CF diagnosis.1 3. Diagnosis of Cystic Fibrosis: Consensus Guidelines from
• Chronic sinopulmonary disease the. Farrell, Philip, et al. Elsevier, 2017, Journal of Pediatrics, Vol.
» Persistent colonization or infections with organisms typical 181S, pp. S4-S15
for CF: Including S. aureus, H. influenzae, P. aeruginosa and
B. cepacian.
» Chronic cough with sputum production: Persistent respira- John Suder, MD, was born in North Carolina but has called
tory symptoms even if not severe should be considered. Texas home for the last seven years. He completed his undergrad at
» Chest radiograph abnormalities: Bronchiectasis, infiltrates East Carolina University after serving four years in the military as
and hyperinflation. a combat medic; medical school at University of North Carolina-
» Airway obstruction: Symptoms such as wheezing or pulmo- Chapel Hill; internal medicine residency at UT Austin Dell Medical
nary function tests showing air trapping. Lung function in School; and pulmonary and critical care fellowship at UT Health San
patients may be variable but may present as mild to severe. Antonio. He is currently finishing his last year of fellowship and will be
» Nasal polyps: By physical examination or on imaging. staying on with UT Health San Antonio with clinical and research interests
» Digital clubbing: A widening and rounding of the fingertips. in cystic fibrosis and bronchiectasis. Dr. Suder is a member of the Bexar
• Gastrointestinal and nutritional abnormalities County Medical Society.
» Distal intestinal obstruction syndrome: This may manifest as
severe recurrent constipation and abdominal pain. Meilinh Thi, DO, was born in Los Angeles but calls Houston
» Pancreatitis: Acute and recurrent episodes may be noted espe- home as she has spent most of her life in the great state of Texas.
cially in the absence of other causes. She completed undergrad at Baylor University; medical school at
» Malabsorption: Evidence of fat malabsorption or deficiencies the University of North Texas Health Science Center; internal
in fat-soluble vitamins. Clinically this may manifest as diarrhea, medicine residency, pulmonary and critical care fellowship, and cystic
foul-smelling greasy stools, flatus, abdominal pain or unex- fibrosis fellowship at the UT Health San Antonio. She currently serves as
plained weight loss/poor weight gain. an assistant professor and director of the adult cystic fibrosis program at the
» Chronic liver disease: Histologically as focal biliary cirrhosis UT Health San Antonio. Her clinical and research interests include cystic
or multilobular cirrhosis. fibrosis and bronchiectasis.
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