Hepatobiliary disease in cystic fibrosis patients with pancreatic sufficiency*1, *2

Abstract

Focal and multilobular biliary cirrhosis are considered pathognomonic of cystic fibrosis (CF) and almost invariably have been reported in patients with steatorrhea. In contrast, patients with pancreatic sufficiency and normal absorption are considered less likely to develop liver or biliary tract problems. The authors report three patients with CF and pancreatic sufficiency, presenting with recurrent abdominal pain (unrelated to pancreatitis). All had common bile duct disease, one with multilobular cirrhosis and portal hypertension. Pancreatic sufficiency was proven by quantitative pancreatic stimulation tests, 3-day fecal fat analyses, and serum pancreatic isoamylases. All three patients had mild lung disease. Two were homozygous for the common delta F508 mutation, and the other, a delta F508 compound heterozygote. Hepatobiliary structure and function were determined by serial hepatobiliary scintigraphy, percutaneous transhepatic cholecystography, and biochemical liver function tests. Patients 1 and 3 had mild hepatomegaly, normal liver biochemistry, and distal common bile duct strictures. Patient 2 had a firm nodular liver with splenomegaly, abnormal liver biochemistry, and a cholangiographic appearance of sclerosing cholangitis. All have undergone operative treatment for persistent abdominal pain. These cases confirm the occurrence of common bile duct pathology and liver disease in patients with CF and pancreatic sufficiency. They demonstrate that liver and biliary tract disease can occur independently of the underlying disease severity and the presence of steatorrhea. Further, they suggest that obstruction of the biliary tract may be an additional factor in the evolution of liver disease in CF.

Highly effective cystic fibrosis transmembrane conductance (regulator) modulator therapy: shifting the curve for most while leaving some further behind

“…Overall, the benefits of HEMT therapy outweigh the risks of liver toxicity. A recent CF Foundation consensus statement on liver disease recommends use of HEMT in pwCF, even in those with concurrent CF associated liver disease (CFLD), though recommended with close monitoring [16 ▪ ].…”

Early detection of hepatobiliary involvement in cystic fibrosis: Biomarkers, radiologic methods, and genetic influences

“…53 The most recent guidelines published by the CFF recommend all PwCF with CFHBI undergo a baseline US that is repeated at least every 2 years. 1…”

“…Cystic fibrosis‐related hepatobiliary involvement (CFHBI) is common in people with cystic fibrosis (PwCF) with varying severity. CFHBI refers to a wide spectrum of hepatic manifestations that includes one or more of the following phenotypes (without features of advanced cystic fibrosis liver disease [aCFLD]): hepatomegaly, liver fibrosis (<F4), focal biliary cirrhosis, cholestasis, steatosis, persistent elevated serum liver function tests (>3–6 months), abnormalities noted on radiological imaging, increased liver stiffness by elastography (<F4), gallstones, hepatolithiasis, and sclerosing cholangitis 1 . While CFHBI is common among PwCF, aCFLD only affects about 5%–10% of PwCF.…”

Advanced cystic fibrosis liver disease: Endovascular, endoscopic, radiologic, and surgical considerations

“…27 Regardless, the significance of refractory ascites (in addition to high INR, bilirubin and low albumin) is a crucial factor in considering liver transplantation in persons with CF and cirrhotic or non-cirrhotic portal hypertension. 3 Paracentesis, removal of peritoneal fluid, serves as both a diagnostic and therapeutic procedure 38 in the management of ascites. It is indicated for new-onset ascites, suspected peritoneal fluid infection, or tense ascites causing symptoms such as dyspnea and abdominal pain.…”

“…3,47 Nevertheless, for secondary prophylaxis, the CFF advocates for the use of endoscopic variceal ligation (EVL) or sclerotherapy (injection of varices with a sclerosing agent) as preferred methods in treating variceal hemorrhage in children with aCFLD. 3 For adults with aCFLD, the CFF supports the use of EVL as a preferred method for primary or secondary prophylaxis in consultation with a pulmonologist and anesthesiologist with expertize in CF. 20,48 Endoscopic variceal ligation deploys high pressure bands around the base of esophageal varices, aiming to decompress engorged vessels, induce controlled tissue necrosis and scarring with repeated sessions to achieve variceal obliteration.…”