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$Unique_ID{BRK04123} $Pretitle{} $Title{Polyposis, Familial} $Subject{Polyposis, Familial Intestinal Polyposis I Familial Polyposis Coli Multiple Familial Polyposis Familial Adenomatous Colon Polyposis ACR Adenomatosis of the Colon and Rectum} $Volume{} $Log{} Copyright (C) 1986, 1988, 1989, 1991, 1992 National Organization for Rare Disorders, Inc. 142: Polyposis, Familial ** IMPORTANT ** It is possible that the main title of the article (Familial Polyposis) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Intestinal Polyposis I Familial Polyposis Coli Multiple Familial Polyposis Familial Adenomatous Colon Polyposis ACR, also known as Adenomatosis of the Colon and Rectum 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. Familial Polyposis is a hereditary condition characterized by multiple, benign growths (polyps) which develop around puberty in the mucous lining of the gastrointestinal tract. Although the polyps themselves are initially benign, untreated patients with Familial Polyposis will eventually develop cancer of the large bowel, often during their late thirties or an earlier age. Symptoms Bleeding and diarrhea are the most common symptoms of Familial Polyposis. Other signs include crampy abdominal pain and weight loss. Persistent rectal bleeding may result in secondary anemia. However, symptoms may be completely absent or may not occur until cancer is already present, emphasizing the importance of early diagnosis. Causes Familial Polyposis is inherited through an autosomal dominant mechanism. (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 normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Evidence has been found on chromosome number five indicating that the genes that suppress tumor development may be lost or damaged in people who develop Familial Polyposis. Some scientists believe that the gene may control manufacture of an unknown substance that keeps the growth of cells' growth in check. If one copy of the gene is lost or damaged, production of the substance may decline, and a cell may develop into a polyp. Other changes in the cell may subsequently lead to cancer. Researchers believe that either a mutated or missing gene on chromosome 5, known as APC, is responsible for the development of Familial Polyposis. Affected Population Familial Polyposis occurs in one out of every 5,000 to 10,000 people and accounts for about one percent of colorectal cancers. Although the highest risk for this disorder is between the ages of 20 and 45, many patients have been diagnosed during their teens or after age 45. Related Disorders Familial Polyposis has been associated with other gastrointestinal syndromes. In Gardner's syndrome, it is associated with skin cysts, bone tumors in the jaw and skull, and up to a full set of extra or impacted teeth. In Peutz- Jeghers syndrome, numerous polyps in the stomach, small intestine, and colon occur with pigmented spots on the skin and mucous surfaces. In Turcot syndrome, familial polyposis is associated with tumors of the central nervous system. In juvenile polyposis, mucus-retention polyps are often diagnosed during infancy or early childhood. Cronkhite-Canada syndrome, an extremely rare disease, is manifested by cystic changes in the mucosa which resemble polyps, but are not at all related to the type of polyps (called adenomas) that characterize Familial Polyposis. For more information on some of the above disorders, choose the following words as your search terms in the Rare Disease Database: Gardner, Peutz, and Cronkhite. Therapies: Standard The aim of therapy in Familial Polyposis is to prevent cancer by the surgical removal of the large bowel. Surgical alternatives include joining the last part of the small intestine to the rectum, meaning that the rectum will have to be checked lifelong for rectal polyps; removing the rectum and creating an ileostomy; removing the lining of the rectum and developing a reservoir from the last part of the small intestine; and removing the rectum and constructing an internal abdominal pouch with a nipple valve. Screening--All children and siblings of a patient with polyposis should undergo rectal examination from puberty onward at regular intervals. Surveillance is lifelong. Therapies: Investigational Dr. Edmund Murphy is studying twins with Familial Polyposis. For information on this study please contact: Edmund A. Murphy, MD Center for Medical Genetics Blalock 1012, Johns Hopkins Hospital 600 N. Wolfe St. Baltimore, MD 21205 (410) 955-5065 This disease entry is based upon medical information available through December 1992. 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 Familial Polyposis, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Familial Polyposis Registry Dept. of Colorectal Surgery Cleveland Clinic Foundation 9500 Euclid Ave. Cleveland, OH 44106 National Digestive Diseases Information Clearinghouse Box NDIC Bethesda, MD 20892 (301) 468-2162 National Foundation of Ileitis and Colitis, Inc. 295 Madison Avenue, Suite 519 New York, NY 10017 (212) 685-3440 United Ostomy Association 20001 West Beverly Blvd. Los Angeles, CA 90057 (213) 413-5510 For information on genetics and genetic counseling referrals, please contact: 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 INTERNATIONAL FAMILIAL POLYPOSIS AND COLON CANCER REGISTRIES Dr. Z. Cohen Ms. T Berk Toronto General Hospital 200 Elizabeth Street Eaton Building 10-315 Toronto, Ontario M5G 2C4 Canada Dr. J.J. DeCosse Department of Surgery Cornell Medical Center 525 East 68th St., F-1917 New York, NY 10021 Dr. E.J. Gardner Natural Resources Biology Laboratory, Rm. 137 Utah State University Logan, Utah 84322 Dr. H. Gordon Mrs. L. Hruska Department of Medical Genetics Mayo Clinic Rochester, MN 55905 Dr. L. Herrera Cancer Research Surgeon Roswell Park Memorial Institute 666 Elm Street Buffalo, NY 14263 Ms. E. McGannon Colorectal Surgery The Cleveland Clinic Foundation 9500 Euclid Avenue Cleveland, Ohio 44106 Mrs. A.J. Kush The Moore Clinic The Johns Hopkins Hospital Baltimore, MD 21205 Dr. H.T. Lynch Department of Preventive Medicine Creighton University School of Medicine Omaha, NE 68178 Dr. L. Strong The University of Texas System Cancer Center M.D. Anderson Hospital and Tumor Institute Houston, TX 77030 Department of Surgery West Virginia University Hospital Morgantown, WV 26505 Dr. R.R. Love Familial Polyposis Registry Cancer Prevention Clinic 1300 University Avenue, 7C Madison, WI 53706 Dr. V.H. Hooks Familial Polyposis Registry Jernigan Cancer Registry 1350 Walton Way Augusta, GA 20190-3599 Dr. S.P. Bralow Roberta Margolis Bralow Cancer Prevention Center The Graduate Hospital, One Graduate Plaza Philadelphia, PA 19146 Dept. of Colorectal Surgery Cleveland Clinic Florida 3000 West Cypress Creek Road Ft. Lauderdale, FL 33309 Dr. J.W. Milson Ferguson Clinic Dept. of Surgical Research 72 Sheldon Blvd., S.E. Grand Rapids, MI 49503 Dr. R. Burt University of Utah Health Science Center 50 North Medical Dr. Salt lake City, UT 84132 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. Pp. 767-8. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 817. HEREDITARY COLON CANCER NEWSLETTER: Volume 9, #1, Spring 1992.