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What Is Polycystic Liver Disease

Medically reviewed by Darragh O'Carroll, MD — By Corey Whelan on October 11, 2022Polycystic 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 affects about 1 in every 100,000 people. But estimates may be low as most people with PLD do not have any symptoms.

What causes 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:PRKCSHLRP5SEC63 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 six times more likely than males to have symptoms and severe disease. Experts think that estrogen, a sex hormone more highly present in females, may play a role in stimulating cyst formation and growth. 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 80% to 90% of people with PLD have ADPKD. 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.

What are the symptoms and complications of polycystic liver disease

PLD often causes no symptoms. Even though the genetic mutation is present at birth, children are not likely to have any symptoms. Older age is a risk factor for cysts, with symptoms typically appearing around age 50. 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:jaundiceabdominal painincreased abdominal sizenausea and vomitingitchy skineasy bruisingunintended weight lossfatigue

Compression of nearby organs

Enlarged PLD cysts can press upon your abdomen and other nearby organs, causing symptoms such as:shortness of breathindigestionabdominal discomfort or painesophageal reflux

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 mobilityswelling of the abdomen and in the lower legspainweight gainnausea and vomitingindigestion

Rare complications

While rare, PLD cysts may:bleedbecome infectedrupture Cyst complications can cause severe abdominal pain and fever. Problems with PLD cysts may be medical emergencies that require immediate attention.

Who gets symptoms with PLD

Many people with PLD will have no symptoms. A 2021 British study found that 20% of people with PLD reported symptoms. But certain factors may increase your risk of developing symptoms. Factors include:over age 50 yearsfemaleuse of estrogen therapymultiple pregnancies

How do doctors diagnose polycystic liver disease

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:magnetic resonance imaging (MRI)computed tomography (CT) scanliver pathology ultrasound 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. A doctor may also order a blood test, which can reveal markers for liver disease. Severe PLD can cause elevated blood levels of gamma-glutamyl transferase (GGT) and alkaline phosphatase (ALP). If you’re asymptomatic, finding out you have PLD and getting treatment may help decrease your risk of serious disease.

What are the treatments for polycystic liver 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:

Medication

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).

Aspiration sclerotherapy

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.

Liver transplant

A liver transplant is currently the only definitive cure available for PLD. Doctors typically reserve liver transplants for very severe disease accompanied by pain and other life-altering symptoms. 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.

Can diet or lifestyle changes help with polycystic liver disease

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.

PLD and hormone therapy

Estrogen, whether naturally occurring or as a supplement, is a known risk factor for PLD. Experts suggest that people with PLD, especially females, should avoid taking contraceptives that contain estrogen. They also advise against hormonal replacement therapy (HRT).

What is the outlook for people with polycystic liver disease

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.

Frequently asked questions

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.

Takeaway

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. Last medically reviewed on October 11, 2022

How we vetted this article

SourcesHistoryHealthline has strict sourcing guidelines and relies on peer-reviewed studies, academic research institutions, and medical associations. We avoid using tertiary references. You can learn more about how we ensure our content is accurate and current by reading our editorial policy.Aapkes SE, et al. Estrogens in polycystic liver disease: A target for future therapies? (2021).
ncbi.nlm.nih.gov/pmc/articles/PMC8456902/Bernts LHP, et al. Clinical response after laparoscopic fenestration of symptomatic hepatic cysts: A systematic review and meta-analysis. (2018).
ncbi.nlm.nih.gov/pmc/articles/PMC6394680/D'Agnolo HMA, et al. (2016). Risk factors for progressive polycystic liver disease: Where do we stand?
academic.oup.com/ndt/article/31/6/857/1752061Giles B, et al. (2021). PWE-2 clinical and radiological characterisation of polycystic liver disease.
gut.bmj.com/content/70/Suppl_4/A104.1Gordon SC. (2015). Polycystic liver disease.
ncbi.nlm.nih.gov/pmc/articles/PMC4843043/Kothadia JP, et al. (2022). Polycystic liver disease.
ncbi.nlm.nih.gov/books/NBK549882/Masyuk TV, et al. (2022). Polycystic liver disease: Advances in understanding and treatment.
ncbi.nlm.nih.gov/pmc/articles/PMC8842879/Polycystic liver disease. (2018).
rarediseases.org/rare-diseases/polycystic-liver-disease/Polycystic liver disease. (2021).
rarediseases.info.nih.gov/diseases/9457/polycystic-liver-diseasevan Aerts RMM, et al. (2019). Estrogen-containing oral contraceptives are associated with polycystic liver disease severity in premenopausal patients.
ncbi.nlm.nih.gov/pmc/articles/PMC6896230/Zhang Z-Y, et al. Polycystic liver disease: classification, diagnosis, treatment process, and clinical management. (2020).
ncbi.nlm.nih.gov/pmc/articles/PMC7097502/Our experts continually monitor the health and wellness space, and we update our articles when new information becomes available. Current Version Oct 11, 2022 By Corey Whelan Edited By A. L. Heywood Medically Reviewed By Darragh O'Carroll, MD Copy Edited By Delores Smith-Johnson Share this articleMedically reviewed by Darragh O'Carroll, MD — By Corey Whelan on October 11, 2022

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