Polycystic liver disease (PLD) is a rare, inherited condition. PLD causes benign (noncancerous) cysts of varying sizes to grow throughout your liver. These cysts get larger over time but often cause no symptoms.
When symptoms do occur, they may include physical discomfort or more serious complications. Most people with PLD start to experience symptoms around age 50. Symptoms of PLD also affect females at much higher rates than males.
In this article, we’ll go over the causes and symptoms of PLD. We’ll also explain how doctors diagnose it and their recommended treatment options.
How common is polycystic liver disease?
PLD is typically an inherited disorder. That means a parent passes on to the genetic mutation that causes PLD to a child. These genetic mutations can also occur randomly (meaning they’re not inherited), but that’s much less common.
Some of the genes linked to PLD include:
Mutations in these genes account for less than 50% of all cases of PLD, according to the National Organization of Rare Disorders. This means other genes are likely involved. Ongoing research is looking into other potential genes that play a role in the development of PLD.
Anyone can have the genetic mutations that cause PLD. But females are
In many instances, liver cysts may be a symptom of polycystic kidney disease (PKD). Until the 1950s, experts thought that PLD was only a complication of PKD. There are two types of PKD: autosomal dominant (ADPKD) and autosomal recessive (ARPKD).
People with ADPKD have mutations in the PKD1 and PKD2 genes, which cause them to form liver cysts. About
ARPKD is much rarer and more likely to cause liver fibrosis than cysts.
The genetics of PLD: What is autosomal dominance?
Most cases of PLD show an autosomal dominant inheritance pattern. Autosomal genes are on the numbered (non-sex) chromosomes. Dominant means one copy of the mutated gene is enough to cause the trait or condition.
That means you only need to inherit the mutated gene from either of your parents. The opposite of this is a recessive trait, which requires two copies — one from each parent.
If one of your parents has PLD, there is a 50% chance they will pass the mutation on to you.
If both your parents have PLD, the chance goes up to 75%.
Genetic testing and counseling may be beneficial if you have a family history of PLD. But genetic testing may not provide conclusive information whether you or your children will develop this disease. Still, knowing you carry a mutation may help you identify symptoms and prevent complications early, should they occur.
PLD often causes no symptoms. Even though the genetic mutation is present at birth,
The most common symptom of PLD is an enlarged abdomen. This is due to the growth and multiplying of cysts (fluid-filled sacs) in your liver. Even with many cysts, your liver may continue to function normally.
Doctors consider you having PLD if you have 10 or more cysts scattered throughout your liver. The cysts can range in size from very small to over 5 inches in diameter.
As the cysts enlarge and multiply, they may cause complications with varying symptoms, such as:
Enlarged liver (hepatomegaly)
Hepatomegaly (enlargement of the liver) can cause symptoms such as:
- abdominal pain
- increased abdominal size
- nausea and vomiting
- itchy skin
- easy bruising
- unintended weight loss
Compression of nearby organs
Enlarged PLD cysts can press upon your abdomen and other nearby organs, causing symptoms such as:
Ascites (fluid in the abdomen)
If one or more cysts press upon blood vessels in your liver, fluid may accumulate in your abdomen, causing ascites. Symptoms of ascites include:
- reduced mobility
- swelling of the abdomen and in the lower legs
- weight gain
- nausea and vomiting
While rare, PLD cysts may:
- become infected
Cyst complications can cause severe abdominal pain and fever. Problems with PLD cysts may be medical emergencies that require immediate attention.
To make a diagnosis, a doctor will order one or more imaging tests to check for cysts in your liver. They may also order imaging tests routinely to monitor the growth of liver cysts.
Imaging tests that may be used include:
If you do not have symptoms, a doctor may order a molecular genetic test, which can be used to diagnose PLD. This test looks for gene mutations that are known to cause PLD.
If you’re asymptomatic, finding out you have PLD and getting treatment may help decrease your risk of serious disease.
If you do not have symptoms from PLD, you will typically not need treatment. If you have moderate to severe PLD, treatment may help improve your quality of life and reduce symptoms. PLD treatments include:
Injected medications may slow cyst growth or reduce fluid secretion and liver volume. Some medications doctors prescribe for PLD include octreotide (Sandostatin) and lanreotide (Sumutuline).
This minimally invasive treatment reduces cyst and liver volume. Doctors most often use aspiration sclerotherapy for large, singular cysts rather than small cyst clusters.
During this procedure, a surgeon makes an incision in your skin. They use ultrasound to guide a needle into the cyst to drain it (aspiration). When the cyst is empty, the surgeon uses chemicals to destroy the cyst wall.
Laparoscopic fenestration (keyhole surgery)
Doctors use this procedure, sometimes called de-roofing, to treat single or multiple cysts. A surgeon will aspirate each cyst and then cut out the remaining cyst structures.
Liver (hepatic) resection
If symptomatic cysts are clustered within one area of your liver, a doctor may recommend removing that part of the liver. This procedure is effective for reducing the symptoms caused by an enlarged liver.
In a liver transplant, a surgeon removes your entire liver and replaces it with a full or partial donor liver. The donor may be living or deceased.
People with certain liver diseases may benefit from dietary changes. But diet and lack of exercise have no known effect on PLD.
Although it will not prevent PLD, choosing actions that support liver health is important. Here are some examples of helpful tips to keep your liver at its healthiest:
- Avoid drinking alcohol in excess.
- Maintain a moderate weight. If you have obesity, and you’re considering weight reduction, talk with a doctor or a specialist who can help you create a plan based on your specific situation.
- Practice safer sex by always using a condom or other barrier method, which can help reduce your risk of hepatitis, an infection that causes inflammation in the liver.
Most people with PLD live full lives with no complications. If complications do occur, they are treatable.
If you have PLD, it’s important to monitor your liver regularly for changes in cyst size and growth.
Here are some commonly asked questions about polycystic liver disease.
Can I prevent polycystic liver disease?
No, you cannot prevent PLD. But you may be able to prevent symptoms or severe disease by avoiding sources of external estrogens.
Can you drink alcohol with polycystic liver disease?
Yes. Alcohol consumption will not stimulate or cause PLD. However, drinking to excess can cause swelling and inflammation in the liver and should be avoided. Misusing alcohol over time can lead to liver scarring and cirrhosis.
Will polycystic liver disease lower my life expectancy?
No. You can have PLD and live a full life with no symptoms. If symptoms or severe disease occur, treatment options are available.
How likely am I to pass on polycystic liver disease to my children?
If you have PLD, there’s a 50% chance you will pass the gene on to your children. This statistic does not change based on the number of pregnancies you have.
Polycystic liver disease is a condition that’s typically inherited.
Both males and females can have PLD, but females are more likely to experience symptoms and more severe disease.
PLD is often asymptomatic. When symptoms or complications occur, treatment may include injected medications or surgery.
Most people with this condition live full lives with the disease causing no complications.