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Polycystic Liver Disease

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Synonyms of Polycystic Liver Disease

Disorder Subdivisions

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.

Symptoms

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.

Causes

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.

Related Disorders

Symptoms of the following disorders can be similar to those of polycystic liver disease. Comparisons may be useful for a differential diagnosis:

Caroli syndrome is a rare congenital liver disorder characterized by enlargement (dilation) of the small branches of the bile ducts inside the liver. If symptoms occur, the most common are abdominal pain, fever, and yellowing of the skin (jaundice). Caroli syndrome occurs because of abnormal prenatal development. (For more information on this disorder, choose "Caroli" as your search term in the Rare Disease Database.)

Choledochal cyst may develop if the common bile duct is malformed, leading to the formation of a cyst. This condition typically appears between the ages of two or three years and adolescence. Bile backs up into the liver causing a yellowish cast to the skin (jaundice). If the cyst becomes infected, surgical removal is necessary. If untreated, cysts in the common (major) bile duct may cause extensive scarring (cirrhosis) of the liver.

Congenital hepatic fibrosis is a rare inherited disorder that is associated with autosomal recessive polycystic kidney disease (AR-PKD). (For more information on this disorder, choose "hepatic fibrosis" as your search term in the Rare Disease Database.)

Neoplastic cysts are abnormal tissue growths that may be benign or malignant. Benign tumors may cause abdominal discomfort or bleeding within the sac that lines the abdominal cavity (peritoneum). Liver function is usually normal with benign tumors. Malignant tumors may cause loss of appetite, weight loss, pain, and fever. The liver may be enlarged, tender, and hard. Excess watery fluid in the spaces between the tissues and organs in the abdomen (ascites) may also occur. Yellowing of the skin (jaundice) is usually absent or mild but may worsen with time.

Standard Therapies

Diagnosis
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
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:
www.centerwatch.com

Organizations related to Polycystic Liver Disease

References

TEXTBOOKS
Stein JH, Hutton JJ, Kohler PO, et al., eds. Internal Medicine. 4th ed. Mosby-Yearbook, Inc., St. Louis, MO. 1994:636-37.

Yamada T, Alpers DH, Owyang C, et al., eds. Textbook of Gastroenterology. 2nd ed. J. B. Lippincott Company. Philadephia, PA; 1995:2228.

REVIEW ARTICLES
Alobaidi M, Shirkhod A. Benign focal liver lesions: discrimination from malignant mimickers. Curr probl Diagn Radiol. 2004;33:239-53.

Everson GT, Taylor MR, Doctor RB. Polycystic disease of the liver. Hepatology. 2004;40:774-82.

Kamath BM, Piccoli DA. Heritable disorders of the bile ducts. Gastroenterol Clin North Am. 2003;32:857-75.

JOURNAL ARTICLES
Konstadoulakis MM, Gomatos IP, Albanopoulos K, et al. Laparoscopic fenestration for the treatment of patients with severe adult polycystic liver disease. Am J Surg. 2005;189:71-75.

Everson GT, Taylor MR. Management of polycystic liver disease. Curr Gastroenterol Rep. 2005;7:19-25.

Robinson TN, Stiegmann GV, Everson GT. Laparoscopic palliation of polycystic liver disease. Surg Endosc. 2005;19:130-32.

Tan YM, Ooi LL. Highly symptomatic adult polycystic liver disease: options and results of surgical management. ANZ J Surg. 2004;74:653-57.

Davil S, Furu L, Gharavi AG, et al. Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nat Genet. 2004;36:575-77.

Drenth JP, Tahvanainen E, te Morsche RH, et al. Abnormal hepatocystin caused by truncating PRKSCH mutations lead to autosomal dominant polycystic liver disease. Hepatology. 2004;39:924-31.

Ubara Y, Takei R, Hoshino J, et al. intravascular embolization therapy in a patient with an enlarged polycystic liver. Am J Kidney Dis. 2004;43:733-38.

Qian Q, Li A, King BF, et al. Clinical profile of autosomal dominant polycystic liver disease. Hepatology. 2003;37:164-71.

Tahvanainen P, Tahvanainen E, Reijonen H, et al. Polycystic liver disease is genetically heterogeneous: clinical and linkage studies in eight Finnish families. J Hepatol. 2003;38:39-43.

FROM THE INTENET
McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Polycystic Liver Disease; PCLD. Entry Number; 174050: Last Edit Date; 6/1/2004.

Genetic Liver Disease. In: Action Plan for Liver Disease. DHHS. NIH. 2005.
http://www.niddk.nih.gov/fund/divisions/ddn/ldrb/chapters/ldrb_chapter11.pdf

Cystic Disease of the Liver. American Liver Foundation. 2002-2003. 3pp.
www.liverfoundation.org/db/articles/1045

About Your Liver. British Liver Trust. 2002. 5pp.
www.britishlivertrust.org.uk/content/liver/about.asp

Cystic Disease of the Liver. British Liver Trust. 2002. 2pp.
www.britishlivertrust.org.uk/content/diseases/cystic_disease.asp

Report last updated: 2008/04/25 00:00:00 GMT+0