Polycystic Liver Disease

Polycystic liver disease (PLD) is a rare genetic disorder. It causes numerous fluid-filled sacs (cysts) to develop throughout your liver. A liver is usually smooth and uniform in appearance. But a liver with PLD can look like a cluster of grapes. Cysts can also grow on their own in different parts of your liver.

If you have polycystic liver disease, you may not have any symptoms. Most people don’t. But if the cysts become large or numerous enough, they can cause uncomfortable abdominal symptoms. These can include abdominal pain and swelling. If PLD is starting to affect your life, talk to your healthcare provider. Early diagnosis and treatment can help you manage your condition and prevent complications.

Types of polycystic liver disease

Polycystic liver disease can occur in two forms:

• Autosomal dominant polycystic kidney disease (ADPKD): This is the most common form. It makes up about 70% of PLD cases. People with ADPKD develop cysts in both their kidneys and liver. The severity of both liver and kidney involvement can vary greatly.
• Isolated polycystic liver disease (PLD): This is a less common form that occurs by itself, with no cysts in your kidneys. It occurs in about 30% of PLD cases. Isolated PLD tends to have a later onset in life than ADPKD-associated PLD. Symptoms usually appear in adulthood.

Symptoms of polycystic liver disease

Most people with polycystic liver disease don’t experience any symptoms. You may not even know you have the disease. But if your liver becomes enlarged and bulky with cysts, you may experience polycystic liver disease symptoms like:

• Abdominal pain and swelling: These are the most common symptoms of PLD. The pain can be sharp or dull. It may be in the upper right part of your abdomen where your liver is. A swollen abdomen can also occur due to the enlarged liver itself or due to fluid buildup (ascites).
• Feeling full after eating a small amount of food (early satiety): A large liver full of cysts can crowd your stomach. This can make you feel full sooner than usual.
• Shortness of breath: If cysts become very large, they can press on your diaphragm. This is the muscle that separates your chest from your abdomen. It plays an important role in breathing. It can make it difficult to take a deep breath.

These are the main symptoms. But there are a couple of rarer ones, as well:

• Back pain: This can occur if the enlarged liver pushes on your back muscles.
• Heartburn: A large liver can also put pressure on your stomach. This can cause stomach acid to flow back up into your esophagus.

Polycystic liver disease causes

Polycystic liver disease is a genetic condition. Most people inherit the disease. But it can also occur randomly.

A genetic change (variant) in the PRKCSH gene causes some cases of isolated polycystic liver disease. This gene plays a role in cell signaling within your liver. Variants disrupt typical bile duct development, leading to cyst formation. Other genes linked to the disease include:

• ALG8
• GANAB
• LRP5
• PKHD
• SEC63

But these genes make up less than 50% of all cases. So, many other genes are involved in the condition.

Risk factors for polycystic liver disease

Females are more likely than males to develop polycystic liver disease. This is because the hormone estrogen stimulates cyst growth.

Complications of polycystic liver disease

Fortunately, many people with polycystic liver disease experience no complications. The disease itself is rarely life-threatening. But there are some potential complications that can arise if the cysts become very large or numerous, including:

• Cyst bleeding: While uncommon, a cyst can rupture and bleed internally. This can cause sudden and severe abdominal pain.
• Cyst infection: This is another rare complication, but it can be serious. Symptoms of an infected cyst can include fever, chills and worsening abdominal pain.
• Bile duct obstruction and jaundice: Large cysts can press on your bile ducts, which carry bile from your liver to your small intestine. This can cause bile to back up into your bloodstream. When that happens, it can lead to jaundice (yellowing of your skin and whites of your eyes).
• Portal hypertension: In severe cases, PLD can lead to portal hypertension, which is high blood pressure in your portal vein. This is the main blood vessel that carries blood from your intestines to your liver. Portal hypertension can cause fluid buildup in your abdomen (ascites).
• End-stage liver disease: This is a very rare complication of PLD. In extremely advanced cases, your liver function can become severely compromised due to extensive cyst development.

How doctors diagnose polycystic liver disease

Diagnosing polycystic liver disease often involves a combination of factors. This is because you may not have symptoms, and other conditions can mimic PLD. Your healthcare provider will look at your biological family history of the condition, when it started and any symptoms. But most likely, they’ll request imaging tests, including:

• Liver ultrasound: This is usually the first imaging test providers use. It can effectively detect cysts. But it may not always be able to tell the difference between PLD and other causes.
• Computed tomography (CT) scan: This provides more detailed images than ultrasound. It can be helpful for evaluating cyst size and location.
• Magnetic resonance imaging (MRI): MRI offers image clarity. This can be particularly useful for telling PLD apart from other liver conditions.

Your provider may also consider genetic testing in some cases. Particularly if there’s no family history or the imaging is uncertain. It can help identify specific gene variations linked to PLD forms.

How is polycystic liver disease treated?

If you don’t have symptoms, you don’t need treatment for polycystic liver disease. But if the cysts have become large and numerous, treatment might be necessary. Treatment for polycystic liver disease may include:

• Medication
• Minimally invasive procedures
• Surgery

Medication

While no medications can shrink cysts permanently, some options can help manage symptoms, including:

• Pain relievers: Over-the-counter (OTC) pain relievers like acetaminophen or ibuprofen can help manage mild to moderate abdominal pain.
• Somatostatin analogs: These medications can reduce liver cyst size and improve symptoms. If treatment stops, the liver cysts may grow again. The treatment is usually safe, and serious side effects are rare.
• Ursodeoxycholic acid (UDCA): This medication may improve liver function in some cases, particularly for people with PLD associated with ADPKD.

Minimally invasive procedures

For specific problems caused by large cysts, your provider may use a minimally invasive procedure. These include:

• Cyst aspiration: Your provider inserts a needle into a cyst to drain the fluid and relieve pressure. This can provide temporary pain relief, but cysts often refill over time.
• Sclerotherapy: After draining a cyst, your provider injects a sclerosing agent (medication) to irritate the cyst lining. This causes it to scar and hopefully prevent refilling.
• Ablation: Techniques like laser ablation or radiofrequency ablation use heat or energy to destroy the cyst lining and promote shrinkage.

Surgery

In severe cases with very large or problematic cysts, your provider may consider surgery. Options include:

• Partial liver resection: Your provider removes a portion of your liver containing a large number of cysts.
• Liver transplantation: A liver transplant may be necessary if PLD causes severe complications and other treatments are ineffective. This is very rare.

When should I see my healthcare provider?

Most people with polycystic liver disease don’t have symptoms. So, you may not even know you have the condition. But if you begin to develop abdominal pain, swelling and other symptoms of the disease, talk to your provider.

What is the life expectancy for polycystic liver disease?

Polycystic liver disease doesn’t affect life expectancy. Most people with the condition don’t know they have it. If you develop symptoms of the condition, see your healthcare provider. Getting a diagnosis and treatment as soon as possible can help manage your condition and prevent complications.

How do I take care of myself?

Lifestyle modifications can play a supportive role in managing polycystic liver disease, including:

• Maintaining a healthy weight for you: Excess weight can put additional strain on your liver.
• Eating healthy: A balanced eating plan rich in fruits, vegetables and whole grains can help support overall health and liver function.
• Staying hydrated: Drinking plenty of fluids can help prevent constipation, which can worsen abdominal discomfort.

Can you drink alcohol with polycystic liver disease?

Yes. Alcohol consumption doesn’t cause or trigger polycystic liver disease. But you should limit the amount you drink. Drinking in excess can lead to inflammation and swelling of your liver. Over time, excessive alcohol use can lead to liver scarring and cirrhosis.