Development of ascites is an ominous sign usually accompanied by a decline in nutrition and lung function.18 Signs of impending liver failure include declining platelets, hypoalbuminemia, elevated international normalized ratio (INR), and hypoglycemia. Hepatopulmonary syndrome is a rare but serious complication with a 5-year survival rate of 23%.
In healthy children, the frequency of occasional abdominal pain is about 11%. In contrast, 50% to 60% of children with CF report chronic abdominal pain.12 This is a major issue for quality of life, leading to sleep disruption, restriction of activities, and contributing to anxiety and depression. Functional abdominal pain is common due to visceral hyperalgesia and amplification of pain attributed to the stress of being chronically ill. Additional considerations include gastritis (due to frequent use of steroids or NSAIDs), pancreatitis (among patients who have pancreatic sufficiency),19 and postoperative complications, such as adhesions or strictures following abdominal surgery. Right upper quadrant or epigastric pain should alert a provider to the possibility of cholelithiasis.
There is a 3-fold increased prevalence of celiac disease in CF, but it often goes unrecognized.20 However, CF alone can result in a falsely elevated anti-tissue transglutaminase (tTG) immunoglobulin A (IgA), as it is an acute phase reactant.12 Thus, endoscopic evaluation is necessary to confirm celiac disease.
Right lower quadrant pain can be due to appendicitis, DIOS, intussusception, or Crohn disease, which is 17 times more prevalent in CF than the general population21 (Table 3). As in children without CF, intermittent abdominal pain can be due to undiagnosed malrotation with intermittent volvulus. In particular, infants with CF are at higher risk of volvulus in absence of malrotation due to inspissation of meconium. Fat malabsorption increases the risk of oxalate kidney stones.
Gynecologic or testicular issues also should be remembered in the appropriate clinical settings.
Significant improvements in CF have focused primarily on the pulmonary system with less attention given to the gastrointestinal complications.22,23 Effects of CFTR mutations on the gastrointestinal system are beginning to be better appreciated. The complex interplay between electrolytes, enzymes, microbiota, and the various other components of gut physiology requires further research.
Gastrointestinal symptoms contribute substantially to morbidity in CF and represent a major opportunity for improvement in the care of these patients. A multidisciplinary team of pediatricians, pulmonologists, gastroenterologists, respiratory therapists, nutritionists, pharmacists, and physical therapists who appreciate the complexity of this disease and recognize the importance of the holistic approach in patients’ care can make a significant difference in these children’s life expectancy and quality of life.
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