What are the other Names for this Condition? (Also known as/Synonyms)

• Autosomal Dominant Polycystic Liver Disease
• Isolated Polycystic Liver Disease
• PLD (Polycystic Liver Disease)

What is Polycystic Liver Disease? (Definition/Background Information)

• Polycystic Liver Disease (PCLD) is an inherited disorder, which is characterized by the presence of multiple cysts of varying sizes scattered throughout the liver. It is usually associated with polycystic kidney disease
• The condition generally affects middle-aged women. Usually, Polycystic Liver Disease is a silent condition and does not manifest any signs or symptoms in the early stages. PCLD is usually and incidentally diagnosed through an abdominal ultrasound or CT scan undertaken for other health reasons
• Generally, Polycystic Liver Disease need not be treated, if the individual does not have any significant symptoms. The associated prognosis is normally good, because the condition does not cause many complications and the affected individuals can lead a normal quality of life
• There is no effective prevention of Polycystic Liver Disease available, since it is an inherited genetic disorder

There are two forms of Polycystic Liver Disease and these are:

• Polycystic Liver Disease in isolation (cysts are present only in the liver), also known as Isolated PCLD
• Polycystic Liver Disease associated with autosomal dominant polycystic kidney disease (cysts are present both in the liver and kidneys), also known as Autosomal Dominant PCLD. This form accounts for about 80-90% of all PCLD cases

Who gets Polycystic Liver Disease? (Age and Sex Distribution)

• Polycystic Liver Disease is usually an inherited condition. Cysts (in the liver) can either be present at birth or may develop later
• These cysts grow slowly and are not diagnosed until adulthood. Most individuals are diagnosed in their 40s and 50s. The number of cysts increase with age
• Women are affected more often than men by PCLD
• This condition occurs worldwide

What are the Risk Factors for Polycystic Liver Disease? (Predisposing Factors)

The main risk factor for Polycystic Liver Disease is having a family member with the disorder. The other important risk factors include:

• Female sex
• Advancing age: As age increases, the size and number of cysts also increases

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Polycystic Liver Disease? (Etiology)

• Polycystic Liver Disease (PCLD) is an inherited genetic condition with an autosomal-dominant pattern
• Most cases of PCLD are caused by a mutation in the PRKCSH or SEC63 gene

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly functioning gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Polycystic Liver Disease?

Most individuals with Polycystic Liver Disease may present no symptoms. But, if the liver becomes enlarged with multiple cysts, the following signs and symptoms may be noted:

• Pain or discomfort in the upper right part of the abdomen
• Abdominal bloating or swelling
• Feeling of abdominal fullness after eating a small amount of food

Later, these cysts can compress the liver and interfere with its function, resulting in the following symptoms:

• Muscle-wasting and malnutrition
• Swelling of the leg, feet
• Jaundice: Yellowish discoloration of the skin and white of the eyes

How is Polycystic Liver Disease Diagnosed?

As Polycystic Liver Disease is usually not associated with any illness or symptoms, most individuals are diagnosed during a routine medical exam (performed for other health issues), or during the diagnosis of polycystic kidney disease.

Many factors are involved in the diagnosis of Polycystic Liver Disease, including family history, age, and the number of cysts.

• The liver cysts may be visualized using an ultrasound or CT scan
• On a liver ultrasound study, the smooth uniform appearance of a normal liver may be replaced by multiple cysts that appear like clusters of grapes

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Polycystic Liver Disease?

The complications of Polycystic Liver Disease may include:

• Bleeding into the cyst: A sudden and severe right upper abdominal pain and shoulder pain may be felt due to the bleeding into the cyst
• Infection of the cyst
• Obstruction of the bile duct and jaundice (yellowing of the skin and eyes)
• Sometimes, during the later stages, these cysts may become very large, obstructing normal liver functions and cause severe symptoms and complications that may necessitate a liver transplant

How is Polycystic Liver Disease Treated?

Polycystic Liver Disease does not require any treatment, unless the individual develops significant signs and symptoms. The treatment depends on the stage of the disorder, the overall health of the individual, and whether it is associated with polycystic kidney disease.

• Painkillers can be used to relieve abdominal pain
• Antibiotics are given in case of infection of the cyst
• Somatostatin analogues, such as lanreotide, can help reduce the polycystic liver volume

In case of multiple, enlarged cysts compromising the liver function, and compressing other organs, a surgery may be necessary to open or remove the cysts.

The surgical treatments may include:

• Cyst aspiration: With the help of an ultrasound or CT scan, a needle or catheter is used to drain the fluid in the cysts. However, this is only a temporary measure, since the cysts get re-filled with the fluid
• Sclerotherapy: A procedure in which a hardening substance, such as alcohol, is injected into the cyst
• Cyst fenestration: In this procedure, the wall of the cyst is removed and an opening created, which is known as cyst fenestration or de-roofing
• Liver resection: If most of the cysts are sited in a particular area of the liver, then that part of the liver is surgically removed to provide pain and symptom relief, and also to reduce the size of the liver. But, this procedure is not performed, if the cysts are scattered throughout the liver
• Liver transplantation: When a liver resection is not possible or does not relieve the symptoms, a liver transplant may be helpful. This treatment is typically helpful for individuals with severe abdominal pain, trouble eating, and whose quality of life is poor due to PCLD

Note: Women with Polycystic Liver Disease, who are taking estrogen replacement therapy or oral contraceptives, have to discontinue these medications since it can increase the size of the cysts.

How can Polycystic Liver Disease be Prevented?

• Currently, there are no specific methods or guidelines to prevent Polycystic Liver Disease, since it is a genetic condition
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• The growth rate of the cysts may be slowed through dietary measures (avoiding caffeine, having a low-salt diet, etc.)

What is the Prognosis of Polycystic Liver Disease? (Outcomes/Resolutions)

• Most individuals diagnosed with Polycystic Liver Disease are asymptomatic and lead a normal quality of life
• In some individuals, who may require an appropriate surgery to reduce the liver size, the prognosis is good
• Typically, Polycystic Liver Disease does not lead to liver failure. However, in case of a liver failure, individuals may still cope with the condition and have a better quality of life after a liver transplant
• The prognosis of Polycystic Liver Disease with associated autosomal dominant polycystic kidney disease can be highly variable, due to the possibility of kidney failure

Additional and Relevant Useful Information for Polycystic Liver Disease:

• Liver transplantation is a procedure that involves the surgical removal of a damaged or diseased liver and replacement with a healthy liver, from a suitable and compatible donor

The following article link will help you understand liver transplantation:

https://www.dovemed.com/common-procedures/procedures-surgical/liver-transplantation/