Cystic Fibrosis Liver Disease: Overview

What is cystic fibrosis liver disease?

Cystic fibrosis liver disease (CFLD) only affects patients that have cystic fibrosis (CF), a genetic disorder that primarily affects the lungs and the pancreas, but can also create problems in the liver and other organs. CFLD refers to advanced scarring of the liver that occurs in a small number of patients with CF.

CF is caused by changes, called mutations, in the gene for the cystic fibrosis conductance transmembrane regulator (CFTR), a protein that helps the body create normal mucus and clear it from the cells. Because the protein is abnormal, patients make too much mucus that is too thick to clear from the lining of their organs. The main problems in most patients with CF are in the lungs and pancreas.

Mild liver problems are also common in CF. These include slightly elevated liver blood tests or fat in the liver. About 5% of patients with CF develop more severe scarring of the liver, called cirrhosis, and develop CFLD.

What causes cystic fibrosis liver disease?

The exact cause of CFLD is not known. Most researchers suspect that the reduced function of the CFTR protein in the liver of patients with CF leads to thick bile that can plug the small bile ducts in the liver. These plugs may trigger the inflammation and scarring of the liver found in CFLD.

Who gets cystic fibrosis liver disease?

Only individuals with CF can get CFLD. Among patients with CF, liver disease tends to occur in those with more severe mutations of the CFTR. There are more than 1,000 different mutations to the CTFR that cause CF. To date, no other factors have been shown to predict who will get CFLD among CF patients.

Helpful resources for cystic fibrosis liver disease patients