Familial adenomatous polyposis.
Elizabeth Half1, Dani Bercovich, Paul Rozen
1Familial Cancer Clinic, Gastroenterology Dept, Meir Hospital, Kfar Saba, Israel. eohalf@yahoo.com
Orphanet Journal of Rare Diseases
|October 14, 2009
Summary
Familial adenomatous polyposis (FAP) causes numerous colon polyps, increasing colorectal cancer risk. Early diagnosis via genetic testing and prophylactic surgery significantly reduce mortality and improve quality of life.
Area of Science:
- Genetics
- Gastroenterology
- Oncology
Background:
- Familial adenomatous polyposis (FAP) is an inherited condition characterized by the development of numerous adenomatous polyps in the colon and rectum.
- It affects approximately 1 in 8,300 newborns and accounts for less than 1% of colorectal cancer (CRC) cases.
- FAP can present with various extraintestinal manifestations, including osteomas, dental abnormalities, and desmoid tumors.
Purpose of the Study:
- To provide a comprehensive overview of Familial Adenomatous Polyposis (FAP).
- To discuss the genetic basis, clinical manifestations, diagnosis, and management of FAP.
- To highlight the importance of early detection and intervention for cancer prevention and improved patient outcomes.
Main Methods:
- Review of existing literature on Familial Adenomatous Polyposis (FAP).
- Analysis of diagnostic criteria, including family history, clinical findings, endoscopy, and genetic testing.
- Evaluation of management strategies, encompassing surveillance, prophylactic surgery, and treatment of complications.
Main Results:
- FAP is primarily caused by germline mutations in the APC gene, inherited in an autosomal dominant manner.
- Diagnosis relies on clinical presentation, family history, colonoscopy, and confirmed by genetic testing.
- Prophylactic surgery by the late teens or early twenties is recommended to prevent colorectal cancer, with total proctocolectomy being a common approach.
Conclusions:
- Familial Adenomatous Polyposis (FAP) necessitates lifelong surveillance and management to mitigate CRC risk.
- Early detection through genetic screening and timely surgical intervention are crucial for preventing cancer development and improving survival rates.
- Management should address both gastrointestinal polyposis and potential extraintestinal manifestations to ensure optimal patient quality of life.
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