SHM Converge Scientific Abstract ePoster Gallery-Not Just a Childhood Disease: Diagnosing Cystic Fibrosis in Adulthood

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This case highlights that cystic fibrosis (CF) is not only a childhood disease and can first be recognized in adulthood. A 37-year-old man with chronic sinusitis, gastric dysmotility, severe malnutrition, and prior cavitary pneumonia presented with fever and left-sided chest pain. Imaging showed left upper lobe cavitary pneumonia, and inflammatory markers were elevated. Bronchoscopy cultures grew Pseudomonas aeruginosa and Mycobacterium abscessus, organisms often associated with CF.<br /><br />CF results from mutations in the CFTR gene, causing abnormal chloride transport, thick secretions, and multi-organ disease. Although most cases are diagnosed in childhood, about 10% are identified in adults, often because symptoms are atypical or attributed to more common pulmonary, infectious, or autoimmune conditions. Adult presentations may include recurrent sinopulmonary infections, bronchiectasis, chronic sinus disease, malnutrition, gastrointestinal dysmotility, infertility, pancreatic disease, and nutrient deficiencies.<br /><br />In this patient, CF was confirmed by a positive sweat chloride test (60 mmol/L, with elevated values on both arms) and genetic testing showing heterozygous CFTR intron 9 TG/T repeat variants. Treatment of the acute infection with broad-spectrum antibiotics, later narrowed to meropenem, led to symptom improvement.<br /><br />The case emphasizes the importance of considering CF in adults with recurrent respiratory infections and systemic manifestations such as malnutrition or GI dysfunction. Sweat chloride testing remains the gold standard screening test, with genetic testing used to identify CFTR variants. Early diagnosis is important because CFTR modulator therapies and specialized care can improve outcomes.

Asset Subtitle

Kyra Beckman

Meta Tag

Author List Chitra Parikh MD, Kyra Beckman, Maxwell Bressman MD

Category Clinical Vignettes

Concept Cystic Fibrosis

Concept Sweat Chloride Test

Concept Adult-Onset Cystic Fibrosis

Concept CFTR Gene

Concept CFTR Variant

Distinguished Non-Finalist

Presenter Organization Greenwich Hospital

Presenting Author Kyra Beckman

Track Adult

Keywords

cystic fibrosis

adult diagnosis

CFTR gene

sweat chloride test

chronic sinusitis

bronchiectasis

Pseudomonas aeruginosa

Mycobacterium abscessus

malnutrition

gastrointestinal dysmotility

Cystic Fibrosis

Sweat Chloride Test

Adult-Onset Cystic Fibrosis

CFTR Gene

CFTR Variant