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Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
Published on: August 29, 2025
[Cystic fibrosis presenting as acute recurrent pancreatitis]
J R Foruny Olcina1, V F Moreira Vicente, L Maiz Caro
1Servicio de Gastroenterología, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Insights
Cystic fibrosis (CF) can present in adulthood with recurrent acute pancreatitis, even without pancreatic insufficiency. This case highlights CF as a differential diagnosis for unexplained pancreatitis in adolescents and adults.
Area of Science:
- Genetics
- Internal Medicine
- Pediatrics
Background:
- Cystic fibrosis (CF) is a genetic disorder typically diagnosed in early childhood.
- Mutations in the CFTR gene on chromosome 7 cause CF, leading to multi-organ dysfunction.
- While most cases present early, some individuals experience delayed diagnosis due to milder symptoms.
Observation:
- A 17-year-old male presented with two episodes of acute pancreatitis.
- The patient did not exhibit signs of pancreatic insufficiency.
- Further investigation revealed nasal polyps.
Findings:
- The patient was diagnosed with cystic fibrosis (CF).
- This case demonstrates that acute recurrent pancreatitis can be an uncommon initial presentation of CF.
- The absence of pancreatic insufficiency did not rule out CF.
Implications:
- Highlights the importance of considering CF in the differential diagnosis of unexplained pancreatitis, particularly in adolescents and adults.
- Suggests that genotype may influence the clinical presentation and age of diagnosis in CF patients.
- Emphasizes the need for comprehensive evaluation in cases of recurrent pancreatitis, even without classic CF symptoms.
Abstract:
Cystic fibrosis is a multiorgan autosomal recessive disease resulting from mutations in a gene located on the long arm of chromosome 7. The disease is usually diagnosed in the first few years of life when it typically presents with severe pulmonary manifestations and pancreatic insufficiency; however, a small percentage of patients with less dramatic symptoms is not diagnosed until adolescence or even adulthood. The genotype of each patient seems to influence the various forms of clinical presentation. Although uncommon, acute recurrent pancreatitis can be one of the forms of delayed presentation of cystic fibrosis. We report the case of an 17-year-old man who was diagnosed with cystic fibrosis after presenting 2 episodes of acute pancreatitis without associated pancreatic insufficiency. Subsequent study also revealed nasal polyps.
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