Polycystic Liver Disease (PLD)/ Congenital Fibrosis
Structural Liver Disease
Description
Polycystic Liver Disease (PLD) is a genetic disease, which means it is caused by mutations in your DNA. Patients with PLD have numerous cysts in their liver; a cyst is a closed sac filled with fluid. The buildup of multiple cysts and the growth of single cysts may cause the liver to enlarge.
PLD can occur as an isolated form of cysts in the liver and in this case it is called autosomal dominant polycystic liver disease (ADPLD). However, it can also be present as an extra-renal manifestation in autosomal dominant polycystic kidney disease (ADPKD). In that case, cysts exist both in the kidneys and in the liver.
The majority of patients do not experience any symptoms as a result of liver cysts. However, persistent growth of the cysts may lead to enlargement of the liver, up to 10 times its normal size.
Liver enlargement may cause symptoms such as: abdominal fullness; lack of appetite; early satiety; acid reflux; nausea; pain; shortness of breath; limited mobility; fatigue; in addition to anxiety and discontentment with appearance, particularly due to enlargement of the stomach.
Estrogen, the female hormone, is known to cause further enlargement of the liver. This is the reason why most patients with symptoms are female. Also, hormonal birth control and postmenopausal hormone therapy with estrogens lead to faster enlargement of the liver. It is important that patients with PLD do not take any medication or treatment containing estrogen.
Information videos for patients
What is Polycystic liver disease?
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For more information on kidney cysts, you can visist PKD International.
Can I pass PLD on to someone else?
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How will my disease progress?
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What are the most common symptoms?
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What about pain in my abdomen and diets?
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What can I do about my PLD?
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Diagnosis
Your doctor can make a diagnosis using an ultrasound, a CT-scan or an MRI scan.
Management
Treatment options include puncturing large cysts or treating the cyst with ethanol or polidocanol. Cysts can be removed with surgery under general anesthetic as an inpatient procedure. Medication in the form of somatostatin analogue injections can be used to slow down cyst growth. The last resort in severely affected patients is liver transplantation.
You can ask your doctor to discuss your case with ERN experts if there are no PLD experts available in your region or country.
Primary Biliary Cholangitis (PBC, formerly Primary Biliary Cirrhosis)
Downloads
In addition to the information on the website, please find below patient information leaflets for download in different EU languages and further links.