Polycystic liver disease (PLD) is a rare genetic condition in which a person develops cysts throughout their liver.

Most people with PLD do not experience any symptoms. When symptoms do develop, they typically occur around the age of 50 years and may include abdominal pain, acid reflux, and shortness of breath. Doctors may treat the symptoms with medication and surgery.

This article describes what PLD is, including its symptoms, diagnosis, and treatment. It also outlines the life expectancy for people living with PLD.

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PLD is a rare genetic condition characterized by the development of cysts within the liver. When a person has PLD, they have several mutations of the genes that build proteins in their liver’s epithelial cells. These mutations replace healthy liver tissue with fluid-filled cysts.

Usually, PLD runs in families, meaning that the mutations can persist across multiple generations. However, in some cases, these mutations may occur spontaneously in people with no family history of the condition.

Liver cysts can also be an indication of the condition autosomal dominant polycystic kidney disease (ADPKD), in which cysts develop in the kidneys as well.

In fact, for many years, doctors thought PLD was a complication of ADPKD and were unaware that the disease could present in an isolated form, which is commonly called “isolated PLD.” Although people with isolated PLD will never develop cysts in their kidneys, nearly all individuals with ADPKD present with this symptom.

Females are more likely than males to develop PLD because research shows that the hormone estrogen stimulates cyst growth.

People living with PLD usually have in excess of 10 cysts in their liver, with some cysts growing to more than 15 centimeters in diameter.

While many people with PLD do not experience any symptoms, some people may present with:

In rare cases, people may experience more severe symptoms, such as:

  • intense and acute pain from ruptured cysts
  • fever from a cyst infection
  • portal hypertension, which is high blood pressure in the major vein that leads to the liver
  • liver fibrosis, which is excessive scar tissue within the liver
  • jaundice, which is a yellowing of the skin and the whites of the eyes due to liver disease

Females have a higher risk of developing severe symptoms than males.

Most people do not receive a diagnosis of PLD until they are about 50 years of age. Up to 80% of people with PLD only receive a diagnosis incidentally after having a scan for another condition.

To confirm the presence of liver cysts, doctors use imaging tests, such as:

However, before reaching a diagnosis of isolated PLD, a doctor must first rule out ADPKD. To do this, the doctor will request blood tests and scans of the kidneys.

After looking at the scans, a doctor will apply Reynold’s criteria, which consider any risk factors that a person may have for PLD, including:

  • age
  • family history
  • any presenting symptoms of liver disease

Most people with PLD do not present with any symptoms. In such cases, treatment is not necessary.

People experiencing severe symptoms may require treatment to reduce cyst volume and liver size. Below, we outline some of these treatment options.

Medical therapy

Most drugs that doctors use to treat PLD are still in clinical trials, so it is difficult to draw conclusions about their long-term effectiveness and tolerability.

Octreotide is one drug that appears highly effective at reducing liver size. However, because this drug is expensive, doctors only recommend it when PLD severely affects a person’s quality of life.

Although researchers have not conducted any formal studies on estrogen receptor antagonists, which bind to receptors for the hormone estrogen, they may be of use. As estrogen plays a significant role in the development of liver cysts, blocking the action of this hormone may help with PLD.

Surgical therapy

Surgical techniques that a person with PLD may undergo include:

  • Aspiration: A surgeon inserts a tube into the cysts to drain them. Depending on the extent of the procedure, a person will receive either a local or general anesthetic.
  • Sclerotherapy: After a surgeon has drained the cysts, they may apply a chemical, such as ethanol, to destroy the cells that line the cysts. This helps prevent the cysts from refilling with fluid.
  • Artery embolization: A surgeon places a thin tube in the blood vessel that supplies the cyst with blood. This blocks the vessel and starves the cyst of the nutrients and growth factors that it requires for growth.
  • Laparoscopy: This is a type of keyhole surgery, during which the surgeon cuts open the cyst and removes the fluid and cells that line it.
  • Partial liver resection: If there are many cysts growing on a particular area of the liver, a surgeon may recommend removing that part of the liver.

Liver transplant

If a person does not respond well to medication or surgery, their doctor may recommend a liver transplant. However, this situation is only likely to arise in people with very severe PLD symptoms and malnutrition.

No specific diet can prevent PLD. However, a well-balanced diet will help protect liver function.

Foods that a person should include in their diet:

Foods that a person should avoid include:

  • processed foods that contain elevated levels of sugar, fat, and salt
  • alcohol
  • raw or uncooked shellfish, such as oysters and clams

Only a small number of people with PLD present with symptoms, and even fewer go on to develop severe complications. Consequently, most people with PLD reach their full life expectancy.

To achieve the best possible health outcomes, people with PLD may require medical care from a range of healthcare professionals, including:

Polycystic liver disease is a genetic condition that causes cysts to grow in the liver. Most people do not experience any symptoms. However, females have a higher risk than males of developing complications.

Many of the drugs that could have a meaningful effect on PLD symptoms are still in clinical trials. However, people with severe symptoms may benefit from surgery to drain, destroy, or remove cysts. In very rare cases, a person may require a liver transplant to stop severe symptoms that have not responded well to medication or surgery.

Overall, people with PLD can expect to live a full life. Although it is not possible to prevent or cure PLD with diet, a well-balanced, low fat, fiber-rich diet can help protect liver function.