Appendicitis in Cystic Fibrosis: A Challenging Diagnosis

Abstract

Cystic fibrosis (CF) is the most frequent autosomal recessive chronic disease in Caucasians caused by defects in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR), that controls chloride and bicarbonate transport through cell membranes. CF is characterized by limited life expectancy due to multisystemic involvement, morbidity and mortality being influenced by progressive, obstructive lung disease, pancreatic insufficiency and associated comorbidities as diabetes and liver disease. Gastrointestinal complications are common and diagnosis can be challenging. We describe a case report of a young female adolescent with severe lung disease, diabetes and biliary cirrhosis that presented with a pulmonary exacerbation and developed gastrointestinal symptoms dominated by abdominal pain. Diagnosis was challenging, mainly because of associated comorbidities and atypical presentation of gastrointestinal symptoms. Team approach and careful monitoring resulted in successful management of the case.