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[Cystic fibrosis--initial diagnosis in a 39-year-old patient]
J Bargon1, J Rickmann, V Jacobi
1Medizinische Klinik II, Schwerpunkt Pneumologie/Allergologie, Johann-Wolfgang-von-Goethe-Universität Frankfurt/Main. bargon@t-online.de
Insights
Cystic fibrosis (CF) is often missed in adults. This case highlights that CF should be considered in adults with bronchiectasis, pancreatic insufficiency, or liver cirrhosis.
Area of Science:
- Medical Genetics
- Pulmonology
- Hepatology
Background:
- Cystic fibrosis (CF) is a common genetic disorder primarily diagnosed in childhood.
- Adult diagnosis of CF is infrequent due to a lack of awareness among non-pediatricians.
- Delayed diagnosis can lead to misdiagnosis and suboptimal patient management.
Observation:
- A 39-year-old woman with a long history of bronchiectasis, pancreatic insufficiency, and liver cirrhosis was eventually diagnosed with CF.
- Her complex medical history and age contributed to the delayed diagnosis.
- The patient's symptoms were present for many years before the correct diagnosis was established.
Findings:
- The case illustrates the challenges in diagnosing cystic fibrosis in adulthood.
- The combination of bronchiectasis, pancreatic insufficiency, and liver cirrhosis can indicate CF in adults.
- Even isolated symptoms should prompt consideration of CF in the differential diagnosis.
Implications:
- Healthcare providers should consider cystic fibrosis in the differential diagnosis for adults presenting with bronchiectasis, liver cirrhosis, or pancreatic insufficiency.
- Increased awareness of adult-onset CF is crucial for timely and accurate diagnosis.
- Early diagnosis of adult CF can lead to improved management and patient outcomes.
Background:
Cystic fibrosis is the most common hereditary disorder among Caucasians. Most of the patients are diagnosed as children. However, some cases are going undiagnosed into adulthood and are then often misdiagnosed because the non-pediatricians do not know cystic fibrosis very well and do not consider this diagnosis in adult patients.
Case Report:
We present the medical history of a woman, who was diagnosed with cystic fibrosis at the age of 39 years, although she had suffered from bronchiectasis, pancreatic insufficiency and liver cirrhosis since many years. Her medical history was long with some diagnosis, but because of her age nobody considered the final diagnosis.
Conclusion:
In adult patients with bronchiectasis, liver cirrhosis and pancreatic insufficiency in combination or with only one of these symptoms, cystic fibrosis should be included into the differential diagnosis.