Familial adenomatous polyposis

Common Name(s)

Familial adenomatous polyposis, FAP, Adenomatous polyposis coli

Familial adenomatous polyposis (FAP) is a genetic condition that causes growths of tissue (polyps) to develop in the large intestine (colon) and rectum. If these polyps are not removed, the polyps will become cancerous with time. There are three forms of FAP: classic, attenuated (milder), and autosomal recessive FAP. In the classic form, a person can have thousands of polyps and usually develops colon cancer in their 30s. In attenuated FAP, colon cancer usually does not develop until a person is in their 50s. In autosomal recessive FAP, a person usually develops less than 100 polyps. In addition to polyps and colon cancer, FAP can also cause noncancerous growths in the intestines (desmoid tumors) as well as cancerous and noncancerous growths in other parts of the body, including part of the small intestine (duodenum), stomach, bones, and skin.

Both classic and attenuated FAP are caused by a change (mutation) in the APC gene, while autosomal recessive FAP is caused by mutations in the MUTYH gene. The APC and MUTYH genes help to keep cell growth under control. Mutations in these genes can cause uncontrolled cell growth, leading to polyp formation in the colon and rectum. FAP caused by mutations in the APC gene is inherited in an autosomal dominant manner, which means a mutation in only one of the two copies a person has is enough to cause the condition. FAP caused by mutations in the MUTYH gene is inherited in an autosomal recessive manner, which means a mutation in both copies of the gene a person has is needed to cause the condition.

FAP is considered as a possible diagnosis in a person with multiple polyps in their colon. The diagnosis can be officially confirmed with genetic testing. Treatments include removal of the polyps and removal of the colon. If you or your child has been diagnosed with FAP, talk to a doctor about all treatment options. Support groups are also available to connect with others who are affected by FAP.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial adenomatous polyposis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial adenomatous polyposis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Familial adenomatous polyposis" returned 311 free, full-text research articles on human participants. First 3 results:

Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP); a polyposis registry experience.
 

Author(s): Anwer Nusliha, Ushantha Dalpatadu, Binara Amarasinghe, Pramodh Chitral Chandrasinghe, Kemal Ismail Deen

Journal:

 

Familial Adenomatous Polyposis (FAP) is an autosomal dominant condition giving rise to multiple adenomatous polyps in the colon which invariably become malignant by the fourth decade. Congenital hypertrophy of retinal pigment epithelium (CHRPE) is one of its extra intestinal manifestations ...

Last Updated: 22 Oct 2014

Go To URL
A large deletion of chromosome 5q22.1-22.2 associated with sparse type of familial adenomatous polyposis: report of a case.
 

Author(s): Tatsuro Yamaguchi, Koichi Koizumi, Masami Arai, Kazuo Tamura, Takeru Iijima, Shin-Ichiro Horiguchi, Michiko Miyaki

Journal: Jpn. J. Clin. Oncol.. 2014 Dec;44(12):1243-7.

 

The proband was a 32-year-old man with sparse type of familial adenomatous polyposis with fundic gland and duodenal polyps and congenital hypertrophy of the retinal pigment epithelium without osteoma, dental abnormalities and desmoid tumors. Direct DNA sequencing did not detect germline ...

Last Updated: 26 Nov 2014

Go To URL
Evaluation of endoscopic characteristics of upper gastrointestinal polyps in patients with familial adenomatous polyposis.
 

Author(s): Seyed Reza Fatemi, Azadeh Safaee, Sara Pasha, Mohamad Amin Pourhoseingholi, Rasool Bahrainei, Mahsa Molaei

Journal: Asian Pac. J. Cancer Prev.. 2014 ;15(16):6945-8.

 

Familial adenomatous polyposis (FAP) is a disease inherited in an autosomal dominant fashion. Most FAP patients develop upper gastrointestinal polyps; especially those in the antrum and duodenum are usually neoplastic. The aim of this study was to evaluate the prevalence of gastroduodenal ...

Last Updated: 29 Aug 2014

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Familial adenomatous polyposis" returned 27 free, full-text review articles on human participants. First 3 results:

Risk of ileal pouch neoplasms in patients with familial adenomatous polyposis.
 

Author(s): Masahiro Tajika, Yasumasa Niwa, Vikram Bhatia, Tsutomu Tanaka, Makoto Ishihara, Kenji Yamao

Journal: World J. Gastroenterol.. 2013 Oct;19(40):6774-83.

 

Restorative proctocolectomy is the most common surgical option for patients with familial adenomatous polyposis (FAP). However, adenomas may develop in the ileal pouch mucosa over time, and even carcinoma in the pouch has been reported. We therefore reviewed the prevalence, nature, ...

Last Updated: 4 Nov 2013

Go To URL
APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests.
 

Author(s): Sarah E Kerr, Cheryl B Thomas, Stephen N Thibodeau, Matthew J Ferber, Kevin C Halling

Journal: J Mol Diagn. 2013 Jan;15(1):31-43.

 

Inactivating APC mutations cause familial adenomatous polyposis, classically characterized by hundreds to thousands of adenomatous colorectal polyps and cancer. Historically, 98% of pathogenic alterations in APC are nonsense or frameshift mutations; however, few reported series have ...

Last Updated: 24 Dec 2012

Go To URL
Chemoprevention in familial adenomatous polyposis.
 

Author(s): Brian Kim, Francis M Giardiello

Journal: Best Pract Res Clin Gastroenterol. 2011 Aug;25(4-5):607-22.

 

Familial adenomatous polyposis (FAP) predictably leads to adenomas and eventual adenocarcinomas in the lower gastrointestinal tract and less frequently, the upper gastrointestinal tract. Chemopreventive strategies have been studied in FAP patients to delay the development of adenomas ...

Last Updated: 29 Nov 2011

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Use of Curcumin for Treatment of Intestinal Adenomas in Familial Adenomatous Polyposis (FAP)
 

Status: Recruiting

Condition Summary: Familial Adenomatous Polyposis

 

Last Updated: 3 Dec 2014

Go to URL
Trial of Eflornithine Plus Sulindac in Patients With Familial Adenomatous Polyposis (FAP)
 

Status: Recruiting

Condition Summary: Familial Adenomatous Polyposis

 

Last Updated: 27 Jul 2015

Go to URL
Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis
 

Status: Recruiting

Condition Summary: FAP-Familial Adenomatous Polyposis

 

Last Updated: 25 Jun 2014

Go to URL