Familial adenomatous polyposis

Diagnosis

A frequent screening program should begin early in the childhood if the patient is at risk. During yearly checkups, polyp development that is not yet malignant can be found.

• Screening
  • Computed tomography (CT) scan or magnetic resonance imaging (MRI): This procedure will provide an image of the abdomen and the pelvic area. This imaging test could also be used to properly evaluate desmoid tumors.
  • Sigmoidoscopy: To examine the rectum and sigmoid colon, a flexible tube is insert into your rectum. It is recommended to have an annual sigmoidoscopies starting at age 10 to 12 for those who have been genetically diagnosed with FAP or for those who have family members at risk but have not had genetic testing.
  • Colonoscopy: To examine the entire colon, a flexible tube is insert into your rectum. Once colon polyps are identified, you must undergo an annual colonoscopy until your colon is surgically removed.
  • Esophagogastroduodenoscopy (EGD): The stomach, esophagus, and upper small intestine are all examined using this type of screening procedure. Healthcare provider could also conduct a biopsy during this procedure by taking a small tissue sample.
  • Genetic testing: If someone have the defective gene that causes FAP, a simple blood test can reveal this. They might be able to tell if someone is at risk for FAP issues through genetic testing. Healthcare provider could advise genetic testing if they have a family member that had been diagnosed with FAP. Saving children at risk from years of screening and emotional hardship is one benefit of eliminating FAP. Children who do have the gene have a significantly lower risk of developing cancer with the right screening and care.
  • Other test: When FAP is diagnosed, or when the patient is in the middle of their adolescent years, the thyroid is examined annually using an ultrasound scan. Other test will also be recommended to assess and evaluate for any other medical problems that may develop upon having FAP.

Treatment

Healthcare provider will initially remove any small polyps discovered during the colonoscopy procedure. Usually by the late teens or early 20s, the polyps will accumulate to a point where they are too many to remove one by one. To stop colon cancer, patient will then be required to have surgery. A polyp that is malignant will also require surgery.

• Colorectal minimally invasive surgery: A few tiny incisions that only need one or two stitches to seal may be used by the surgeon to execute the surgery laparoscopically. The recovery time will likely be accelerated in regard to this less invasive procedure.

Patient might have one of the following procedures to have all or a portion of your colon removed, depending on your circumstances:

• • Subtotal colectomy with ileorectal anastomosis: Rectum is left untouched.
  • Total proctocolectomy with a continent ileostomy: Surgery that involves the removal of the colon and rectum and the creation of an opening (ileostomy), typically on the right side of your abdomen.
  • Total proctocolectomy with ileoanal anastomosis: (also known as J-pouch surgery), which involves attaching a portion of the small intestine to the rectum after the colon and rectum are removed.
• Follow-up treatment: Surgery does not necessarily cure FAP. The sections of the colon, stomach, and small intestine that are still in place or that have been rebuilt can still develop polyps. Endoscopic removal of the polyps might not be sufficient to lower the risk of cancer depending on their quantity and size. Additional surgery might be recommended.

Following colorectal surgery, the patient will require routine monitoring for familial adenomatous polyposis complications and, if necessary, treatment. The doctor may recommend extra therapy for the following conditions based on the screening results:

• • Duodenal polyps and periampullary polyps: Due to the possibility of these types of polyps developing into cancer, a healthcare provider may advise surgery to remove the upper portion of the small intestine (duodenum and ampulla).
  • Desmoid tumors: Nonsteroidal anti-inflammatory medicines, anti-estrogens, and chemotherapy may all be prescribed to the patient. However, surgical procedure might still be recommended.
  • Osteomas: Healthcare providers will recommend to surgically remove these noncancerous bone tumors for any cosmetic reasons and pain relief.