Practical approach to the gastrointestinal manifestations of cystic fibrosis

Abstract

Cystic fibrosis (CF) is the most common, life-shortening, genetic illness affecting children in Australia and New Zealand. The genetic abnormality results in abnormal anion transport across the apical membrane of epithelial cells in a number of organs, including the lungs, gastrointestinal tract, liver and genito-urinary tract. Thus, CF is a multi-system disorder that requires a multi-disciplinary approach. Respiratory disease is the predominant cause of both morbidity and mortality in patients with CF. However, there are significant and clinically relevant gastrointestinal, liver, pancreatic and nutritional manifestations that must be detected and managed in a timely and structured manner. The aim of this review is to provide evidence-based information and clinical algorithms to guide the nutritional and gastrointestinal management of patients with CF.

Hepatic Manifestations of Cystic Fibrosis

“…Patient who fail medical management of portal hypertension and have variceal bleeding or other complications such as ascites, hypersplenism and severe thrombocytopenia may benefit from transhepatic porto-systemic shunts (TIPS), creation of surgical shunts, or splenectomy or partial splenic embolization. 42,43 There is no clear consensus of which modality is best and this typically depends on the patient's symptoms, underlying anatomy, center experience and transplant candidacy. In the study by Gooding et al, of the 38 episodes of variceal bleeding in patients with CFLD, 30 were controlled endoscopically (band ligation and/or sclerotherapy, with 1 patient requiring glue injection for gastric varices), while 2 patients required TIPS after failed endoscopic treatment and 1 patient requiring surgical splenorenal shunt after failed endoscopic treatment.…”

“…Nutrition is a key part of the management of patients with CF and is associated with better lung function and survival in children with CF. 43 Malnutrition is multifactorial, including pancreatic insufficiency as well as CFLD which can lead to malabsorption of fats and fatsoluble vitamins. Severe malnutrition itself can also lead to hepatic steatosis, which is in the spectrum of CFLD.…”

“…Patients also often require higher calorie intakes (110-200% of the general population) along with high fat diets in order to achieve their nutritional goals. 43 Patients with pancreatic insufficiency will benefit from pancreatic enzyme replacement therapy. 43 Unfortunately, medical treatment of CFLD has not yet been shown to improve nutritional outcomes in patients with CFLD.…”

“…43 Patients with pancreatic insufficiency will benefit from pancreatic enzyme replacement therapy. 43 Unfortunately, medical treatment of CFLD has not yet been shown to improve nutritional outcomes in patients with CFLD. However, liver transplantation in patients with CFLD has been shown to preserve nutritional status with one study showing mild improvement in median BMI 5 years post-transplantation compared to pre-transplantation (19.6 kg/m 2 vs 18.0 kg/m 2 ), though the difference was not statistically significant.…”

Cystic Fibrosis of the Pancreas: The Role of CFTR Channel in the Regulation of Intracellular Ca2+ Signaling and Mitochondrial Function in the Exocrine Pancreas

“…Currently more than 2000 CFTR gene mutations have been described, whereas only 159 mutations have been characterized in terms of disease liability (Sosnay et al, 2013; De Boeck and Amaral, 2016; Bolia et al, 2018). The most common mutation type in 85% of patients worldwide is the deletion of phenylalanine at position 508 (F508del), which was identified by Riordan et al (1989).…”