Don’t fight Familial adenomatous polyposis alone.Find your community on the free RareGuru App.
Familial adenomatous polyposis (FAP) is an inherited condition that causes cancer of the large intestine (colon) and rectum. People with the classic type of FAP usually develop hundreds to thousands of noncancerous (benign) polyps (growths) in the colon as early as their teenage years. Overtime, these polyps can become malignant (cancerous), leading to early-onset colorectal cancer at an average age of 39 years. Other signs and symptoms may include dental abnormalities; desmoid tumors; and benign and malignant tumors of the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. Some people have a milder form of the condition called attenuated familial adenomatous polyposis (AFAP) which is generally characterized by fewer colon polyps (an average of 30) and a delay in the development of colon cancer by 10-15 years. FAP is caused by changes (mutations) in the APC gene and is inherited in an autosomal dominant manner. People with FAP usually undergo regular screening until they develop 20 to 30 polyps and then a colectomy (removal of colon) is generally recommended.
Source: GARD Last updated on 05-01-20
The signs and symptoms of familial adenomatous polyposis (FAP) vary both within families and between families. Classic FAP is characterized primarily by hundreds to thousands of noncancerous (benign) polyps (growths) in the colon that begin to appear at an average age of 16 years. Unless the colon is removed, these polyps will become malignant (cancerous), leading to early- onset colorectal cancer at an average age of 39 years.
Other features of FAP may include:
Last updated on 05-01-20
Genetic testing is available for the gene known to cause familial adenomatous polyposis (FAP). Prenatal testing and genetic testing for at-risk relatives are possible if the disease-causing mutation in the family is known. Because colon screening for those at risk for classic FAP begins as early as age ten years, genetic testing is generally offered to children by this age. Testing may be offered earlier if the child is showing signs or symptoms of FAP.
The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated on 05-01-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!