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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.
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.
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.
CF patients with mild liver problems usually do not have any symptoms. In patients with advanced CFLD, an enlarged spleen or liver is the most common finding. As the advanced CFLD progresses, high pressure in the portal vein, the large vein that brings blood to the liver develops (portal hypertension). This can lead to accumulation of fluid in the abdomen and bleeding from dilated veins (called varices) in the esophagus or stomach. In some patients, poor nutrition can also develop as a result of CFLD.
A blood test is used to measure the levels of the liver enzymes aspartate transaminase (AST), alanine transaminase (ALT) and gamma-glutamyl transpeptidase (GGT). Elevated liver enzymes are found in about half of patients with CFLD, but they are also found in many CF patients without CFLD.
An abdominal ultrasound, CT scan or MRI are the main imaging tests used to make the diagnosis because they allow doctors to examine the liver for signs of scarring.
A liver biopsy can also be helpful in diagnosing CFLD. During a biopsy, a small sample of the liver is taken from a patient and examined under a microscope.
Our doctors diagnose CFLD using information from a physical exam, blood tests and imaging like an ultrasound, CT scan or MRI. CFLD is usually suspected after a doctor finds an enlarged spleen or liver during an exam. The next step is usually blood tests to look for other potential causes of liver disease and an abdominal ultrasound to look for scarring in the liver. Further testing with CT or MRI scans or liver biopsy may add information.
At Children's Hospital Colorado, CFLD patients are cared for in the Pediatric Liver Center in close collaboration with our Cystic Fibrosis Center. At the Pediatric Liver Center, doctors, nurses, social workers and dietitians with experience treating patients with CF and CFLD design the best treatment approach for each patient.
Although there is no known cure for CFLD, there are ways to reduce the effects of the disease. Usually, a combination of attention to diet and use of medications and procedures, such as endoscopy, are combined.
Most children with CFLD can lead long, productive lives managing their condition. However, in some patients, worsening problems from the scarring in the liver cause complications or liver failure and a liver transplant may be required.
The CF Center at Children's Hospital Colorado is the largest CF center in the country. We have vast experience with CFLD and are at the forefront of research and testing for new medicines. The CF Center is a therapeutic development network center through the Cystic Fibrosis Foundation. We provide early access to clinical trials of new treatments for CFLD.
Our Pediatric Liver Center is part of the Cystic Fibrosis Liver Disease network through the Cystic Fibrosis Foundation and the NIH. The doctors at our Pediatric Liver Center are international leaders in the care of children with CFLD. Dr. Michael Narkewicz, the medical director at Children's Colorado Pediatric Liver Center is the head of the international CF Liver Disease Network and has studied CF liver disease for over 15 years.
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