What is attenuated familial adenomatous polyposis?
Attenuated familial adenomatous polyposis (AFAP) is an inherited condition that increases the chance to develop cancer of the large intestine (colon) and rectum. It is a milder form of classic familial adenomatous polyposis (FAP).
How common is attenuated familial adenomatous polyposis?
Attenuated familial adenomatous polyposis is rare. Please discuss with your doctor for further information.
What are the symptoms of attenuated familial adenomatous polyposis?
The common symptoms of attenuated familial adenomatous polyposis are:
- Benign or malignant tumors of the duodenum (a section of the small intestine)
- Adenomatous colonic polyposis
- Intestinal polyposis
- Abdominal bleeding
- Cramping abdominal pain
- Weight loss
- Rectal bleeding
- Other symptoms of FAP
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
When should I see my doctor?
If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
What causes attenuated familial adenomatous polyposis?
Mutations in the APC gene cause both classic and attenuated familial adenomatous polyposis and is inherited in an autosomal dominant manner. These mutations affect the ability of the cell to maintain normal growth and function. Cell overgrowth resulting from mutations in the APC gene leads to the colon polyps seen in familial adenomatous polyposis. Although most people with mutations in the APC gene will develop colorectal cancer, the number of polyps and the time frame in which they become malignant depend on the location of the mutation in the gene.
The abnormal gene causes hundreds or even thousands of polyps to grow in your colon and rectum, usually starting by your mid-teens. The polyps are nearly 100 percent certain to develop into colon cancer or rectal cancer by the time you’re in your 40s.
Familial adenomatous polyposis can cause other complications:
- Duodenal polyps. These polyps grow in the upper part of your small intestine and may become cancerous. But with careful monitoring, duodenal polyps can often be detected and removed before cancer develops.
- Periampullary polyps. These polyps occur where the bile and pancreas ducts enter the duodenum (ampulla). Periampullary polyps might become cancerous but can often be detected and removed before cancer develops.
- These noncancerous masses can arise anywhere in the body but often develop in the stomach area (abdomen). Desmoids can cause serious problems if they grow into nerves or blood vessels or exert pressure on other organs in your body.
- Other cancers. Rarely, FAP can cause cancer to develop in your thyroid gland, central nervous system, adrenal glands, liver or other organs.
- Noncancerous skin tumors.
- Noncancerous bone tumors.
- Pigment changes in the retina of your eye.
- Dental abnormalities.
What increases my risk for attenuated familial adenomatous polyposis?
Please discuss with your doctor for further information.
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
How is attenuated familial adenomatous polyposis diagnosed?
AFAP is generally managed with regular screening to detect if and when polyps develop. Individuals diagnosed with FAP or AFAP are not only at risk for colorectal cancer but may also have an increased risk over the general population for duodenal, gastric, pancreatic, hepatobiliary, thyroid and brain cancer.
How is attenuated familial adenomatous polyposis treated?
Attenuated familial adenomatous polyposis (AFAP) is generally managed with regular screening to detect if and when polyps develop. Screening by colonoscopy has been recommended for affected people starting at age 20 to 25 years. People with polyps may undergo polypectomy (removal of polyps) followed by continued screenings every one to three years, depending on the number of polyps. A prophylactic colectomy (removal of all or part of the colon) may be considered in people with too many adenomas to remove or those who cannot undergo screening. About one third of people with AFAP have few enough colon polyps that screening with periodic polypectomy is sufficient.
Because individuals with AFAP can also develop duodenal adenomas and other cancers, upper endoscopy is typically recommended starting at age 20 to 30 years and then every one to three years, depending on the number of polyps. There is currently no consensus on screening for tumors that occur outside of the colon, so it has been suggested that affected individuals are managed as if they have classic FAP.
A number of drugs such as celecoxib and sulindac reportedly have been successful at reducing the number and the size of polyps in affected people, but these drugs generally help to prevent further complications and are not considered adequate treatment.
Lifestyle changes & home remedies
What are some lifestyle changes or home remedies that can help me manage attenuated familial adenomatous polyposis?
Please discuss with your doctor for further information.
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.
Review Date: January 3, 2018 | Last Modified: September 13, 2019
Attenuated familial adenomatous polyposis. http://www.checkorphan.org/diseases/attenuated-fap. Accessed January 2, 2018.
Attenuated familial adenomatous polyposis. https://rarediseases.info.nih.gov/diseases/8532/attenuated-familial-adenomatous-polyposis. Accessed January 2, 2018.