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Cystic fibrosis. An adult perspective
Archives of Internal Medicine
|January 1, 1985
Summary
This case study highlights a rare adult-onset cystic fibrosis (CF) diagnosis, primarily presenting as recurrent pancreatitis. Early suspicion and confirmation are vital for effective management of this complex genetic disease.
Area of Science:
- Pulmonology
- Gastroenterology
- Internal Medicine
Background:
- Cystic Fibrosis (CF) is a genetic disorder typically diagnosed in childhood.
- Adult-onset CF is less common and can present with atypical symptoms.
- Recurrent pancreatitis can be an indicator of undiagnosed CF in adults.
Observation:
- A 42-year-old patient presented with recurrent pancreatitis as the main symptom.
- Pulmonary function tests and chest X-rays were normal between pneumonia episodes.
- The diagnosis of cystic fibrosis was delayed until adulthood.
Findings:
- The patient's primary manifestation of cystic fibrosis was recurrent pancreatitis.
- Pulmonary involvement was not evident on standard tests between acute respiratory events.
- Late diagnosis in adulthood is possible for cystic fibrosis.
Implications:
- Cystic fibrosis can mimic other adult-onset conditions, necessitating a high index of suspicion.
- Internists play a crucial role in recognizing and managing adult CF.
- Timely diagnosis of adult-onset CF is essential for appropriate patient care and management strategies.