What Is Polycystic Liver Disease?

Have you heard of polycystic liver disease, also known as PLD? As it is rare, it is hardly talked about, but it is a debilitating condition.

Polycystic liver disease is a rare genetic disorder characterised by the presence of multiple cysts, or fluid-filled sacs, in the liver.

Keep reading to find out more on the symptoms, diagnosis, and how you can support yourself or those affected by polycystic liver disease.

Overview

Polycystic liver disease (PLD) is a rare genetic disorder characterised by the presence of multiple cysts (fluid-filled sacs) in the liver. It is often associated with polycystic kidney disease (PKD), another inherited condition. 

The cysts in the liver can vary in size and number, and their growth over time can lead to an increase in liver size and potential complications. 

The exact cause of polycystic liver disease is not fully understood, but it is believed to be caused by genetic mutations (changes in your DNA). The most common forms of PLD are autosomal dominant polycystic liver disease (ADPLD) and autosomal dominant polycystic kidney disease (ADPKD).¹

Causes of polycystic liver disease

Polycystic liver disease (PLD) is primarily caused by genetic mutations that affect the development and function of liver cells. The exact ways in which these mutations lead to the formation of liver cysts are not fully understood, but researchers have made significant progress in understanding the underlying factors involved.

The two main forms of PLD, autosomal dominant polycystic liver disease (ADPLD) and autosomal dominant polycystic kidney disease (ADPKD), are inherited conditions caused by mutations in specific genes. 

The genes associated with PLD are PKD1, PKD2, and SEC63. Mutations in the PKD1 gene are responsible for the majority of cases of ADPLD, while mutations in PKD2 are less common. Mutations in the SEC63 gene can also cause a rare form of ADPLD.¹

These genetic mutations lead to abnormal growth of cells lining the bile ducts within the liver. The cells divide and form fluid-filled sacs or cysts within the liver tissue. Over time, these cysts can increase in number and size, causing the liver to enlarge and potentially leading to symptoms and complications.

It's important to note that PLD can also occur sporadically, meaning it arises without a known genetic cause or family history. Sporadic cases of PLD are thought to be caused by mutations that occur during a person's lifetime rather than being inherited.

In cases where PLD is inherited, it follows an autosomal dominant pattern of inheritance. This means that a person with an affected parent has a 50% chance of inheriting the mutated gene and developing the condition. In some cases, individuals with the mutated gene may not show symptoms or develop significant liver cysts, while others may experience more severe manifestations of the disease.¹

It's worth mentioning that  PLD and polycystic kidney disease (PKD) are often intertwined. Both conditions can result from mutations in the same genes, particularly PKD1 and PKD2. It is common for individuals with PLD to also have PKD or vice versa. In such cases, the symptoms and complications of the two conditions can overlap.²

Signs and symptoms of polycystic liver disease

The symptoms of polycystic liver disease can vary from person to person. Some may experience no symptoms at all, while others may have symptoms such as:

• Persistent or intermittent pain in the upper right or centre of the abdomen
• Abdominal fullness and bloating
• Gastrointestinal disturbances such as nausea and vomiting
• Difficulty eating due to cysts compressing the stomach
• Fatigue

Management and treatment for polycystic liver disease

The treatment options for polycystic liver disease (PLD) depend on the severity of symptoms, the size and number of liver cysts, and the impact on the individual's quality of life. 

While there is no cure for PLD, several approaches can help manage the condition and alleviate symptoms.³ Here are some possible treatments:

Symptom management 

The primary goal of treatment is to alleviate symptoms associated with PLD. Over-the-counter pain medications, such as acetaminophen or nonsteroidal anti-inflammatory drugs (NSAIDs) like ibuprofen, may be recommended to manage abdominal discomfort or pain. 

However, it's important to consult with a healthcare professional before taking any medications to ensure they are safe and appropriate for your specific situation.

Lifestyle modifications

Certain lifestyle changes can help improve symptoms and overall well-being. These may include: 

• Maintaining a healthy diet
• Regular exercise
• Stress management techniques

Avoiding triggers that worsen symptoms

Drainage procedures

For individuals with large or symptomatic liver cysts, minimally invasive drainage procedures may be considered. These procedures involve inserting a needle or catheter (a thin tube) into the cysts to drain the fluid, providing temporary relief from symptoms. However, cysts often refill, requiring repeated drainage procedures.

Surgical interventions

In cases where symptoms are severe, or there is significant liver enlargement and compression of nearby organs, surgical options may be considered. These procedures aim to reduce cyst burden and alleviate symptoms. 

Examples include:

Cyst fenestration: removing part of a cyst’s wall to prevent it refilling

Cyst removal

Partial liver resection: removing an affected part of the liver 

It's important to note that surgeries carry risks and should be carefully evaluated on a case-by-case basis.

Liver transplantation

In rare and severe cases of PLD with massive liver enlargement and uncontrollable symptoms, liver transplantation may be an option. This involves surgically replacing the diseased liver with a healthy liver from a donor. It is a major procedure with associated risks, and candidates are carefully selected based on medical criteria.

Diagnosis of polycystic liver disease

The diagnosis of polycystic liver disease (PLD) involves a combination of clinical evaluation, imaging tests, and genetic testing.⁴

A healthcare provider would review the patient's medical history and conduct a physical examination to assess symptoms and the size of the liver.

Imaging tests, such as an abdominal ultrasound, computed tomography (CT) scan, or magnetic resonance imaging (MRI), are crucial for visualising the liver and identifying the presence of cysts. These imaging techniques can help determine the number, size, and location of the cysts, as well as evaluate the overall liver function.

Genetic testing can be performed to confirm the diagnosis and identify any underlying genetic mutations associated with PLD. This is particularly important if there is a family history of the disease or if the patient has other related conditions such as polycystic kidney disease (PKD). 

Genetic testing can help determine the specific genetic mutation responsible for PLD and aid in genetic counselling for affected individuals and their families. 

Risk factors

The primary risk factor for polycystic liver disease (PLD) is having a family history of the condition, as it is typically inherited in an autosomal dominant manner. However, certain genetic mutations can also increase the risk of developing PLD independently of family history.

Other risk factors for severe PLD include sex, age, oestrogen uptake and multiple pregnancies.⁴

Complications

Polycystic liver disease (PLD) can lead to various complications, including:

• Enlarged liver (hepatomegaly): as the cysts grow, they can cause the liver to increase in size
• Haemorrhage: the cysts can burst and bleed, leading to extreme pain in the right side of the abdomen
• Infection: cysts can become infected, leading to the formation of abscesses, which may require drainage or antibiotic treatment
• Portal hypertension: portal hypertension means increased blood pressure in the hepatic portal vein, which carries blood from the gut to be filtered by the liver. This can lead to complications such as bleeding or ascites (abdominal fluid accumulation)
• Liver failure: although uncommon, severe PLD can impair liver function and, in rare cases, progress to liver failure, necessitating liver transplantation⁵

FAQs

How can I prevent polycystic liver disease?

Unfortunately, there is currently no known method to prevent the development of polycystic liver disease (PLD) due to its primarily genetic nature.

How common is polycystic liver disease?

PLD is considered a rare condition, affecting around 1 in 10,000 people.

Can I still drink alcohol if I have polycystic liver disease?

It is generally advisable to limit or avoid alcohol consumption if you have PLD to minimise potential strain on the liver and reduce the risk of complications.

When should I see a doctor?

If you suffer from any of the symptoms mentioned in the article, you should seek immediate medical attention.

Summary

Polycystic liver disease (PLD) is a rare genetic disorder characterised by the presence of multiple cysts in the liver. These fluid-filled sacs can vary in size and number, causing the liver to enlarge and potentially leading to various complications. 

PLD is often associated with polycystic kidney disease (PKD) and is caused by mutations in certain genes. 

Symptoms may include abdominal pain, bloating, and an enlarged abdomen. In severe cases, liver transplantation may be necessary. Regular monitoring and supportive care play crucial roles in improving the quality of life for individuals with PLD.