Polycystic Liver Disease

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Polycystic Liver Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • PCLD
  • PLD

Disorder Subdivisions

  • None

General Discussion

Polycystic liver disease is an inherited disorder characterized by many cysts of various sizes scattered throughout the liver. Abdominal discomfort from swelling of the liver may occur; however, most affected individuals do not have any symptoms. In some cases, polycystic liver disease appears to occur randomly, with no apparent cause (sporadically). Most cases are inherited as an autosomal dominant genetic trait. Sometimes, cysts are found in the liver in association with the presence of autosomal dominant polycystic kidney disease (AD-PKD). In fact, about half of the people who have AD-PKD experience liver cysts. However, kidney cysts are uncommon in those affected by polycystic liver disease.


Polycystic liver disease is characterized by a few to many cysts in the liver ranging in size from a few millimeters to over 15 cm in diameter. Symptoms rarely occur although the liver gradually expands as the cysts grow larger. Abdominal discomfort may occur due to the expansion of the liver. Fever may also occur if the cysts break, due to infection or bleeding. Rarely, yellowing of the skin (jaundice) may occur if the bile ducts are compressed by a cyst. High blood pressure in the portal system (blood flow from the intestines to the liver) occurs only if the portal vein is compressed by a cyst.

Liver function is generally unaffected if the liver has only a few cysts or small cysts.


Some cases of polycystic liver disease seem to occur for no apparent reason. Most cases are believed to be inherited in an autosomal dominant fashion.

Changes (mutations) in two genes, one on the short arm of chromosome 19 (19p-13.2-13.1) and one on the long arm of chromosome 6 (6q21-q23) are thought to be linked to polycystic liver disease. These genes are not associated with AD-PKD.

Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 19p13.2-13.1" refers to a region between bands 13.1 and 13.2 on the short arm of chromosome 19. Similarly, chromosome 6q21-q23 refers to a region between bands 21 and 23 on the long arm of chromosome 6. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

Affected Populations

Polycystic liver disease affects males and females in equal numbers. PLD may occur at any age. However, cysts are less common during childhood.

Standard Therapies


Magnetic resonance imaging (MRI), computed tomography (CT) scan, and ultrasound (US) are used to take pictures of the liver to see if cysts are present. The image is diagnostic.


Treatment may not be necessary in many cases of polycystic liver disease (PLD). Removal of the fluid in large cysts (aspiration) may be required in PLD patients with troublesome symptoms.

Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:




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