$Unique_ID{BRK04119} $Pretitle{} $Title{Polycystic Liver Disease} $Subject{Polycystic Liver Disease PLD PCLD Solitary Cysts Caroli Syndrome Echinococcal Cysts Neoplastic Cysts} $Volume{} $Log{} Copyright (C) 1989, 1990 National Organization for Rare Disorders, Inc. 665: Polycystic Liver Disease ** IMPORTANT ** It is possible that the main title of the article (Polycystic Liver Disease) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms PLD PCLD Information on the following diseases can be found in the Related Disorders section of this report: Solitary Cysts Caroli Syndrome Echinococcal Cysts Neoplastic Cysts General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Polycystic Liver Disease (PLD) is an inherited disorder characterized by many cysts in the liver. Abdominal discomfort from swelling of the liver may occur; however, most patients do not have any symptoms. Symptoms Polycystic Liver Disease is characterized by a few to many cysts in the liver ranging from a few millimeters to over 15 cm in diameter. Symptoms rarely occur although the liver gradually enlarges as it is replaced by cysts. Abdominal discomfort may occur due to the stretching of the liver. Fever may also occur if the cysts break due to infection or bleeding into a cyst. 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. Fifty percent of PLD patients have cysts in their kidneys. Rarely, cyst- like lesions can occur in the pancreas, lungs, spleen, and other organs. Causes Polycystic Liver Disease is inherited as an autosomal dominant trait. Liver cysts may also occur as a result of abnormally developed bile ducts in the fetus. Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. Affected Population Polycystic Liver Disease (PLD) 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: Solitary cysts of the liver are most often present in the right part of the liver. They may contain a few milliliters or more than a liter of fluid. Most cysts cause no symptoms. Among patients that do have symptoms, the most common are abdominal discomfort, nausea, and vomiting. Caroli Syndrome is a rare congenital liver disorder characterized by enlargement (dilation) 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). The parasitic tapeworm Echinococcus may cause cysts in the liver. It is more common in central and eastern Europe and rare in the United States. The cyst of Echinococcus granulosus is usually solitary, located in the right part of the liver, and causes no symptoms. Echinococcus multilocularis may cause many cysts in the liver and may extend beyond it. A few patients may have abdominal pain or a slight swelling. Rupture of a cyst, infection, or an allergic reaction may occur as complications. Neoplastic cysts are called tumors which are abnormal tissue growths. There are two kinds: 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. Therapies: Standard Imaging machines such as Angiography, Magnetic Resonance Imaging (MRI), Computed Tomography (CT) Scan, and Ultrasound (US) can take pictures of the liver to see if cysts are present. No treatment may 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. Therapies: Investigational Researchers are investigating several types of surgery that may be effective to treating large troublesome cysts in Polycystic Liver Disease. Unroofing, Fenestration, and Hepatectomy are being studied. Unroofing involves removing the membrane of the cyst and may also involve draining the fluid from the cyst. Fenestration involves creating an opening in the cyst and may also involve removing the cyst. Hepatectomy is the removal of part of the liver. This procedure is used for the most severe cases of Polycystic Liver Disease. Rarely, surgical intervention may be needed to treat portal high blood pressure when it occurs as a rare complication in Polycystic Liver Disease. This disease entry is based upon medical information available through January 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Polycystic Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Liver Foundation 1425 Pompton Ave. Cedar Grove, N.J. 07009 (201) 857-2626 (800) 223-0179 The United Liver Foundation 11646 West Pico Blvd. Los Angeles, CA 90064 (213) 445-4204 or 445-4200 The United Liver Foundation 11646 West Pico Blvd. Los Angeles, CA 90064 (213) 445-4204 or 445-4200 Children's Liver Foundation 14245 Ventura Blvd. Sherman Oaks, CA 91423 (818) 906-3021 For genetic information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 608. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 241. THERAPEUTIC DILEMMAS IN PATIENTS WITH SYMPTOMATIC POLYCYSTIC LIVER DISEASE: R.H. Turnage, et al.; Am Surg (June, 1988: issue 54(6)). Pp. 365- 372. MASSIVE HEPATOMEGALY IN ADULT POLYCYSTIC LIVER DISEASE: M.K. Kwok & K.J. Lewin; Am J Surg Pathol (April, 1988: issue 12(4)). Pp. 321-324.