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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.