Cystic fibrosis presenting in adults

Area of Science:

• Medical Genetics
• Pulmonology
• Internal Medicine

Background:

• Cystic fibrosis (CF) is a well-known genetic disorder primarily affecting pediatric populations.
• Recent observations indicate a rising prevalence of milder CF forms in adults.
• Understanding adult-onset CF is crucial for timely diagnosis and management.

Purpose of the Study:

• To delineate the varied clinical manifestations of cystic fibrosis in adult patients.
• To highlight the diagnostic challenges associated with adult-onset CF.
• To provide a comprehensive overview of CF presentations beyond childhood.

Main Methods:

• Literature review of adult cystic fibrosis cases.
• Analysis of clinical data from adult CF cohorts.
• Synthesis of diagnostic criteria and phenotypic variations in adults.

Main Results:

• Adult cystic fibrosis presents with a broad spectrum of symptoms, often differing from pediatric cases.
• Pulmonary complications like chronic infections and bronchiectasis are common.
• Non-pulmonary manifestations, including pancreatitis and infertility, are significant in adults.

Conclusions:

• Cystic fibrosis should be considered in adults presenting with unexplained respiratory or gastrointestinal symptoms.
• Early recognition of adult-onset CF improves patient outcomes.
• Further research is needed to optimize screening and management strategies for adult CF patients.