About Familial Adenomatous Polyposis
Familial adenomatous polyposis is caused by a gene mutation that leads to the formation of intestinal adenomas (polyps) and increases the risk of colorectal cancer, often requiring colectomy (removal of the colon). If left untreated, people with FAP will develop colorectal cancer, therefore screening and treatment are crucial.
Genetic predisposition is a non-modifiable risk factor for FAP. FAP is an autosomal dominant disorder, meaning it can be inherited from a parent who has the gene mutation.
Modifiable risk factors for FAP are not well defined. However, it's important to note that certain lifestyle factors such as smoking or low fiber diets can influence the development and progression of colorectal cancer in general. These factors may also apply to FAP patients, but further research is needed to establish specific modifiable risk factors for FAP. Nonetheless, maintaining a healthy lifestyle and following recommended screening guidelines for colorectal cancer are beneficial for overall health.
Early on in the disease, there usually will not be symptoms. The most common symptoms that may occur with later stages of FAP include:
- Abdominal pain
- Diarrhea
- Blood in stools
- Dark, sticky feces
- Severe dehydration from electrolyte imbalances caused by diarrhea and mucous discharge
- Obstructed flow of bile, which can cause jaundice and other symptoms
- Obstructed flow of pancreatic enzymes, which can cause acute pancreatitis
- Polyps in the stomach and small intestines
- Osteomas (benign bone tumors)
- Teeth abnormalities
- Congenital hypertrophy of the retinal pigment epithelium (a rarely symptomatic noncancerous growth of the retina) affecting 70% to 80% of people with FAP
- Soft tissue tumors
It's important to note that these symptoms can vary from person to person. If you suspect you may have FAP or are experiencing any concerning symptoms, it's best to consult with your healthcare professional for a proper evaluation and diagnosis.
To diagnose familial adenomatous polyposis, healthcare providers commonly perform the following examinations, tests, and procedures:
- History and Physical Exam: The healthcare provider will conduct a detailed history to learn about symptoms or factors that could be contributing to your condition, including family history of polyps in the colon or colon cancer. A physical exam will be performed to look for general physical signs of medical conditions, such as pain, swelling, or the presence of masses in the body.
- Lab Tests: Specific lab tests may be performed to check for any abnormalities that could indicate FAP.
- Genetic Testing: Genetic tests are used to identify changes in genes, chromosomes, or proteins that are associated with FAP. These tests can confirm or rule out a suspected genetic disease and help determine a person's chance of developing or passing on FAP.
To determine the severity of FAP, additional examinations, tests, and procedures may include:
- Imaging Studies: Healthcare providers may recommend imaging studies like CT or MRI scans to get a closer look at the affected areas and assess the extent of polyp growth.
- Clinical Procedures: Depending on the symptoms and findings, clinical procedures like colonoscopy may be performed to visualize the colon and rectum and evaluate the number and size of polyps present. Biopsies are often taken.
Remember, each individual's situation is unique. It is essential to consult with your healthcare provider for personalized advice regarding examinations, tests, and procedures for diagnosing and staging familial adenomatous polyposis.
The goals of treatment for familial adenomatous polyposis are to:
- Lower the risk of developing colorectal cancer: Partial or complete colectomy, which involves removing the colon, is usually recommended for people with FAP. This surgical procedure can significantly reduce the risk of developing cancer in the colon.
- Manage and prevent polyps: Nonsteroidal anti-inflammatory drugs (NSAIDs), such as sulindac, may be prescribed to treat polyps in the rectum. These medications can help shrink or prevent the growth of polyps.
- Address extracolonic manifestations: FAP can have manifestations in other areas of the body, such as desmoid tumors, thyroid nodules, skin cysts and tooth problems.
It's important to note that medications and therapeutic procedures may vary depending on individual patient factors and should be discussed with a healthcare professional. Health behavior changes, such as maintaining a healthy diet and lifestyle, can also support overall treatment goals for FAP.
Medication dosing may be affected by many factors. Check with your health care professional about dosing for your individual situation. Other side effects can occur. Check with your health care professional or read the information provided with your medication for additional side effect information.