Overview
Familial adenomatous polyposis (FAP) is a rare genetic disorder characterized by the development of numerous polyps in the colon and rectum, primarily due to mutations in the adenomatous polyposis coli (APC) gene. These polyps have a high risk of becoming cancerous, necessitating proactive management strategies to prevent colorectal cancer.
Types of Familial adenomatous polyposis (FAP)
- Classical Familial Adenomatous Polyposis (FAP): Typically involves hundreds to thousands of polyps in the colon and rectum.
- Attenuated Familial Adenomatous Polyposis (AFAP): Presents with fewer polyps (approximately 30), often leading to cancer at a later age compared to classical FAP.
Causes of Familial adenomatous polyposis (FAP)
- APC Gene Mutation: Inherited mutation in the APC gene is the primary cause.
- Spontaneous Mutation: In 25-30% of cases, the genetic defect occurs spontaneously without inheritance.
Risk Factors of Familial adenomatous polyposis (FAP)
- Genetic Inheritance: Having a family history of FAP.
- Age: Symptoms typically manifest in adolescence or early adulthood.
- No Personal History: Spontaneous mutations can occur without a family history of the condition.
Symptoms of Familial adenomatous polyposis (FAP)
1. Rectal Bleeding: Due to polyps in the rectum.
2. Abdominal Pain: Often caused by enlarged polyps.
3. Changes in Bowel Habits: Including diarrhea or constipation.
4. Anemia: Resulting from chronic blood loss.
5. Palpable Abdominal Mass: In advanced cases with significant polyp burden.
Preventions of Familial adenomatous polyposis (FAP)
- Genetic Counseling: Identifying and counseling individuals with a family history of FAP.
- Regular Screening: Colonoscopy starting from adolescence for early detection and polyp removal.
Diagnosis of Familial adenomatous polyposis (FAP)
- Genetic Testing: Identifying APC gene mutations.
- Colonoscopy: Visual examination of the colon and rectum to detect and biopsy polyps.
- Imaging Studies: CT or MRI scans for assessing polyp distribution and size.
Treatment for Familial adenomatous polyposis (FAP)
-
Surgical Options:
- Prophylactic Colectomy: Removal of the colon to prevent cancer.
- Duodenectomy: Surgery to remove polyps in the duodenum if necessary.
-
Medication:
- Nonsteroidal Anti-Inflammatory Drugs (NSAIDs): Some studies suggest they may reduce polyp formation.
-
Regular Monitoring:
- Colonoscopy Surveillance: Periodic screenings to monitor polyp growth and detect early cancer.
When to seek medical attention ?
- Family History: If there's a known history of FAP in the family.
- Symptoms: Any signs like rectal bleeding, abdominal pain, or changes in bowel habits should prompt medical evaluation.
