Cystic Fibrosis Liver Disease

Cystic fibrosis (CF) is a recessive genetic condition that clogs the body’s organs – including the pancreas, lungs and liver – with a thick, sticky mucous.

It develops when a child inherits two copies of the gene mutation from each parent. One in 25 people carries a single copy of the gene, many without even realising it.

CF is usually diagnosed at birth and cannot develop later in life.

The same faulty gene that causes CF also leads to problems with bile draining out of the liver.

Mucous build-up can clog the intra-liver bile ducts and cause long-term liver damage. In these cases, damage and scarring to the liver cells lead to cystic fibrosis liver disease (CFLD). This affects the organ’s ability to function.

We still don’t know whether the obstruction or toxic build-up within the bile ducts causes the most damage.

Approximately 40% of people with cystic fibrosis will have some degree of liver damage. Of these, 5–10% of CF sufferers will experience health problems as a result.

Only some people with CF will develop cystic fibrosis liver disease (CFLD). Common symptoms include:

• jaundice: a yellowing of the skin and whites of the eyes
• ascites: accumulation of fluid in the abdominal cavity, leading to abdominal swelling and discomfort
• fatigue: general tiredness and weakness
• Itching: pruritus (itching of the skin)
• easy bruising and bleeding: cirrhosis (scarring of the liver) can lead to a decrease in blood clotting factors
• portal hypertension: increased pressure in the portal vein (the vein that carries blood from the gastrointestinal tract to the liver) can lead to complications such as enlarged veins in the oesophagus and gastrointestinal bleeding.

CFLD treatment depends on how severe the condition is, but can include:

• good nutrition: liver disease can impact how nutrients are absorbed and used, so it’s important to maintain a well-balanced diet
• medications to manage symptoms
• anti-inflammatory drugs to reduce liver inflammation and fibrosis (scarring)
• vitamin supplements
• maintaining a healthy weight
• avoiding alcohol and medications that could harm the liver
• proactively managing CF-related complications.

If these treatments are ineffective, a liver transplant can be a life-saving option. However, it’s a major surgical procedure with potential risks and complications, and candidates must meet specific criteria for eligibility.

There is currently no definitive cure for CFLD.