Polycystic Liver Disease (PLD)

What is Polycystic Liver Disease? What is Polycystic Kidney Disease?

Polycystic liver disease and polycystic kidney disease (PLD and PKD) are genetic diseases that cause growth of cysts throughout the liver and kidneys. PLD and PKD often run in families but can also occur sporadically from new gene mutations. PKD can progress to kidney failure, but PLD rarely causes liver failure. PLD is most commonly seen in patients with PKD but can occur in patients without PKD.

Why Choose Weill Cornell Medicine for Polycystic Liver Disease Care?

At Weill Cornell Medicine, our multidisciplinary team has extensive experience and expertise in caring for polycystic liver disease patients. We provide advanced diagnostic and treatment options to address your problematic cysts.

Highlights of our program include:

• A multidisciplinary care model that brings together polycystic kidney disease nephrologists, liver surgeons and interventional radiologists, in close collaboration with the Rogosin Institute.
• Ongoing research: through clinical trials, we give you access to new therapies not available at many facilities.
• Renowned transplantation care: The Weill Cornell Medicine liver transplant program offers some of the greatest success rates and lowest wait times in NYC. Additionally, our Living Donor Liver Transplantation Program is the largest in the region, and we’re the only program in our area offering fully laparoscopic donor liver removal. At the Center for Liver Disease and Transplantation, we perform more liver transplants than nearly every facility in America, and our kidney and pancreas transplantation services bring hope and healing when PKD causes kidney failure. Our center has the most experience in the region performing liver transplantation for patients with PLD, having performed more liver transplants for PLD than any program on the east coast within the past 10 years.
• Our abdominal radiology department has developed cutting-edge techniques to assess the severity of PLD and PKD and to help predict the disease course.

Polycystic Liver Disease Risk Factors

PLD is present at birth. It’s unclear what causes cysts to grow, but you are at an increased risk if you:

• Have a family history of PLD
• Have PKD (if you have PKD, you may have PLD as well)
• Are a female (cysts in the liver are more common among females possibly due to the increased presence of estrogen)

Polycystic Liver Disease Symptoms

Many patients with polycystic liver disease never experience symptoms. When cysts grow, they may cause fluid buildup in your abdomen or force your liver to press against blood vessels or organs. This can cause symptoms to arise. The larger the liver and cysts, the more likely it is that symptoms will occur. When symptoms are present, the most common are:

• Abdominal pain and swelling
• Back pain
• Palpable mass (usually a cyst)
• Progressive bloating or feeling full despite eating smaller amounts of food than usual
• Feeling uncomfortable in certain positions (e.g., lying on your abdomen, tying your shoes, sitting for a long period of time)
• Pain
• Reduced muscle mass
• Leg swelling
• Heartburn
• In more advanced cases, fluid may accumulate in the abdomen and, in very rare cases, bleeding from ruptured varices (veins) in the esophagus or stomach may occur 

If one or more cysts burst, you may feel acute pain at the site of the burst cyst. A burst cyst may also result in infection and fever.

How We Diagnose Polycystic Liver Disease

Polycystic liver disease is diagnosed when at least 20 cysts are present in the liver. Genetic testing can be performed but is not required to make this diagnosis.  A blood test can determine if your cysts are caused by a parasite, and an abdominal CT scan can confirm a diagnosis of PLD.

How We Treat Polycystic Liver Disease

Most of the management of PLD is based on symptoms, which typically arise when the cysts and enlarged liver grow to the point they cause discomfort and/or other problems related to compression of other organs.

Treatment options include:

· Medication: monthly injectable medication to reduce the size of the liver and the cysts in the liver. This type of medication can be helpful for some patients, but not all, and may not be covered by insurance.

· Surgery: surgical intervention serves as liver volume reduction treatment, and, depending on your case, the surgeon may remove one or more cysts or drain large cysts

· Transplant: in rare cases where liver enlargement results in malnutrition and/or is associated with severe kidney disease, liver transplantation is an option.

It is best to avoid medications containing estrogen, since estrogen can increase the size of liver cysts.

Schedule an Appointment

To schedule an appointment with the PKD program, please book online with Dr. Brandman or Dr. Schonfeld. 

Meet Our Doctors:

Our board-certified hepatologists provide expert, compassionate care for a wide range of liver disorders based on the latest research and clinical findings. Patients benefit from our hepatologists’ extensive training, targeted care and collaboration with other specialists. Learn more about our physicians below.