Cystic Fibrosis below the Diaphragm: Abdominal Findings in Adult Patients

Abstract

Cystic fibrosis (CF) is the most common lethal autosomal recessive disease in the white population. Mutation of the CF transmembrane conductance regulator gene on chromosome 7 results in production of abnormally viscous mucus and secretions in the lungs of patients with CF. A similar pathologic process occurs in the gastrointestinal tract, pancreas, and hepatobiliary system. Inspissated mucus causes luminal obstruction and resultant clinical and radiologic complications associated with the disease process. Pancreatic involvement can result in exocrine and endocrine insufficiency, pancreatic atrophy, fatty replacement, or lipomatous pseudohypertrophy. Acute and chronic pancreatitis, pancreatic calcification, cysts, and cystosis also occur. Hepatic manifestations include hepatic steatosis, focal biliary and multilobular cirrhosis, and portal hypertension. Biliary complications include cholelithiasis, microgallbladder, and sclerosing cholangitis. The entire digestive tract can be involved. Distal ileal obstruction syndrome, intussusception, appendicitis, chronic constipation, colonic wall thickening, fibrosing colonopathy, pneumatosis intestinalis, gastroesophageal reflux, and peptic ulcer disease have been described. Renal manifestations include nephrolithiasis and secondary amyloidosis. The educational objectives of this review are to reveal the abdominal manifestations of CF to facilitate focused analysis of cross-sectional imaging in adult patients. Life expectancy in patients with CF continues to improve because of a combination of aggressive antibiotic treatment, improved emphasis on nutrition and physiotherapy, and development of promising new CF transmembrane conductance regulator modulators. As lung function and survival improve, extrapulmonary conditions, including hepatic and gastrointestinal malignancy, will be an increasing cause of morbidity and mortality. Awareness of the expected abdominal manifestations of CF may assist radiologists in identifying acute inflammatory or neoplastic conditions. (©)RSNA, 2015.

The unexpected surgical emergency in a child with cystic fibrosis: An acute appendicitis with unusual presentation

“…Thus, acute appendicitis may be atypical. Symptoms may be confusing with DIOS and intussusception or the results may be masked by a prescribed antibiotic therapy to prevent pulmonary exacerbation [2]. Coughlin et al reported 60% of the classical symptoms of appendicitis in the general population against only 45% in CF.…”

“…When gastrointestinal system is affected, abdominal pain is the most common symptom in patients with CF and is frequently due to distal ileal obstruction syndrome (DIOS). Other conditions which are leading to lower abdominal pain in these patients are intussusception, volvulus, pancreatitis and fecaloma [2]. Acute appendicitis is a rare entity in CF [3].…”

Gastrointestinal and Hepatobiliary Disease in Cystic Fibrosis

“…Diagnosis is typically made via ultrasound or CT, with the classic "doughnut" or "target" sign. 103 The first-line treatment is contrast enema, which can be both diagnostic and therapeutic. Exploratory laparotomy may be necessary if enema fails or intussusception is persistent, but when associated with CF, surgical intervention is often not necessary.…”

Meconium Ileus

“…23,34 The etiology of DIOS is thought to be related to a delayed transit of thickened secretions in the lumen of the gastrointestinal tract. 12 It has been proposed that pancreatic insufficiency leads to high fecal fat, which increases stool viscosity and activates the ileal break, delaying transit of intraluminal con-tents. 23 The ileal break is a feedback loop that is activated by fat in the ileum and slows jejunal motility, delays gastric emptying, and reduces small intestinal transit of solid and liquid intraluminal contents.…”