Polycystic Liver Disease: Symptoms, Management, And More

Polycystic liver disease (PLD or PCLD) is a rare genetic disorder and a progressive disease, meaning it develops over long periods of time. Polycystic liver disease is characterized by multiple cysts within the liver. These cysts can range in size from a few millimeters up to over 15cm in diameter, creating large, abnormal masses that can cause a range of problems for those suffering from PLD.

There are two forms of polycystic liver disease: 

• Autosomal Dominant PLD (ADPCLD)

• PLD in association with polycystic kidney disease (ADPKD)

As a progressive disease, PLD is usually detected as people get older.

What causes polycystic liver disease?

PLD is a genetic disorder caused by mutations in your DNA. PLD is characterized by abnormalities in key genes that help regulate normal liver function or cell function. Healthy versions of these genes are responsible for producing proteins that help your liver function or form correctly.

Most commonly, PLD is from ductal-plate malformation during embryonic liver development. The bile ductules are retained and lead to non-communicating cysts. 

What are the symptoms of polycystic liver disease?

Symptoms of polycystic liver disease tend to appear in people later in life as the cysts grow larger and more numerous over time. For the majority of patients with PLD, the disease is asymptomatic, meaning it doesn't cause the individual any problems. In fact, most diagnoses of PLD are made incidentally based on imaging, such as ultrasound, MRI, or CT scan.

In a small percentage of PLD patients, abnormal growth of the liver (known as hepatomegaly) or growth of individual cysts compressing other organs can cause a range of problems. The most common effects of symptomatic PLD are abdominal pain, swelling of the abdomen, and compression of surrounding organs which may affect the organs’ function.

Complications of polycystic liver disease

While PLD is often asymptomatic, there are a few different complications that can result from the presence of cysts in your liver. The primary complications of PLD are:

• Bleeding into a cyst

• Infection of a cyst

• Bile duct obstruction and jaundice (yellowing of the skin and eyes)

Bleeding into a cyst

The progression of PLD may occasionally result in bleeding in the cysts, also referred to as hepatic cyst hemorrhage, which extremely rarely may also rupture. 

This condition usually presents as acute abdominal pain in the upper right quadrant of the abdomen. Hepatic cyst hemorrhages are believed to be caused by increased pressure within the cyst, rapid growth of the cyst, or direct trauma such as a blow to the abdomen.

Infection of a cyst

Infections of PLD cysts are very rare, occurring in around 1% of PLD patients.¹ These infections are believed to be the result of bacteria from the gut finding their way into the isolated cyst. Treatment of infected PLD cysts is usually a broad-spectrum antibiotic.

Bile duct obstruction by a cyst

Bile is a substance your body creates to help transport toxins out of the body and to help with the breakdown of fats in your diet. Bile is excreted by the liver through bile ducts and transported to the intestines.

These bile ducts can become blocked due to cysts in the liver, preventing the flow of bile out of the liver and to the rest of the body. Symptoms of bile duct obstruction include abdominal pain in the right upper quadrant, dark urine, fever, and jaundice (yellowing of the skin).

How can polycystic liver disease be diagnosed?

Polycystic liver disease is most often asymptomatic, meaning those with PLD don’t even know they have it. Symptomatic cases of PLD may trigger your doctor to investigate. 

Your doctor’s suspicions may be aroused by symptoms like a distended (swollen) abdomen, abdominal pain, feeling full without having eaten, or hepatomegaly. Diagnosis of polycystic liver disease is only possible by imaging studies, such as ultrasound, MRI, or CT scan.

What are the treatments for polycystic liver disease?

Cyst aspiration and sclerotherapy

Cyst aspiration and sclerotherapy is a combination treatment that can be used to help reduce or eliminate cysts. Aspiration refers to “sucking up” the cysts through a needle or draining much of the fluid within the cyst.

Following aspiration, a sclerosing agent is injected. A sclerosing agent causes the destruction of the epithelial lining of the cyst, which helps in preventing future fluid production.² Cyst aspiration and sclerotherapy is best suited to cysts over 5cm in diameter and is guided by ultrasound or CT scan. 

Laparoscopic cyst fenestration

Laparoscopic cyst fenestration is one of the primary treatments for symptomatic PLD. It involves aspirating and resecting (removing) a cyst in a single procedure. As an added benefit, your doctor can use this method to treat multiple cysts at the same appointment.

In a laparoscopic cyst fenestration, much of the wall of the cyst is removed, along with the fluid contained within the cyst. This procedure is relatively safe but does come with the risk of complications, especially for larger resections involving the removal of a lot of cyst tissue. The primary complications of a laparoscopic cyst fenestration are arterial or venous bleeding, post-procedure drainage issues, and bile leaks.

Hepatic resection

Hepatic resection procedures are generally reserved for patients with very large livers and severe symptoms while still having enough normal liver tissue to justify saving the organ versus an outright replacement.

Hepatic resection is best suited to patients with cysts clustered in individual segments of the liver. As with laparoscopic cyst fenestration, the possible side effects include venous bleeding and bile leaks, along with distortion of the liver tissue vasculature.

Liver transplantation

Liver transplantation, also referred to as a liver replacement, is not a common procedure for polycystic liver disease unless the size and number of the cysts is significant. 

A doctor will recommend a liver transplant if other alternatives have failed, the patient has severe liver-related malnutrition, or if their liver function is significantly impaired. Liver transplants are reasonably successful, with a five-year survival rate of around 88%.³

Medications

There is a lack of adequate medical treatment options for PLD patients, though there are some potential therapeutics currently under investigation.

Somatostatin receptor antagonist

Octreotide is a somatostatin analog, meaning it is a long-acting somatostatin. 

Octreotide inhibits a naturally-occurring compound called cyclic-adenosine monophosphate (cAMP). cAMP plays a crucial role in cell proliferation (growth) and fluid secretion and has been connected to the formation and growth of cysts. However, there can be severe side effects, and octreotide and other somatostatin analogs, such as pasireotide, are rarely used.

Mammalian target of rapamycin (mTOR) inhibitor

mTOR has been found to be abnormally activated in patients who have PLD and is believed to be at least partially responsible for cystic cell growth. mTOR also increases the creation and secretion of vascular endothelial growth factor (VEGF), another compound known to promote the development of cysts. 

In this context, sirolimus has been shown to decrease the liver volume of PLD patients; however, further studies are needed.⁴

Vasopressin-2-receptor antagonists

Studies have found that when vasopressin-2 receptors are stimulated, they increase the production of cAMP.⁵ cAMP has been connected to the formation and growth of cysts.

The idea is that by preventing vasopressin-2 receptors from being activated, one might halt or reverse cyst development. Further research must be done on vasopressin-2 receptors to determine what other effects they have on liver cells and liver function before these medications are used clinically.

Estrogen receptor antagonists

Women are more commonly diagnosed with PLD than men, leading to the hypothesis that estrogen may promote cyst development. Few studies have been conducted on this basis, but there is reason to look deeper, and oral contraceptives are not recommended for women with PLD.⁶

Does your diet affect polycystic liver disease?

While eating healthy is always advisable, there is no special diet for those with PLD. Experts recommend drinking between two and three liters of water per day and consuming a low-salt diet, both of which may help protect your kidneys from developing cysts like your liver has. A healthy diet is rich in fruits and vegetables, with a wider range of foods being the best. Furthermore, it is advisable to avoid excess alcohol intake.

The lowdown

Polycystic liver disease usually doesn’t cause problems for those diagnosed with it, but in some cases, it can. There are different treatment options for PLD. If you are worried you may have PLD, it is a good idea to talk to your doctor.

Frequently asked questions

What is the life expectancy for those with polycystic liver disease?

For most patients, polycystic liver disease doesn’t change their life expectancy. The majority of people with PLD don’t notice any effects from their cysts. However, a small but considerable subset of patients progresses to have extensive hepatomegaly with severe disease and repercussions.