FAMILIAL ADENOMATOUS POLYPOSIS

Overview and Facts

A deficiency in the adenomatous polyposis coli (APC) gene results in the rare, hereditary disorder known as familial adenomatous polyposis. Most people get the gene from one of their parents. However, the genetic mutation happens spontaneously in 25–30% of people.

Your big intestine and rectum develop more tissue as a result of FAP. The upper gastrointestinal system, particularly the upper portion of the small intestine, is another area where polyps can develop. When you are in your mid-40s, the polyps in your rectum and colon are likely to develop into cancer if left untreated.

The large intestine must eventually be surgically removed in the majority of patients with familial adenomatous polyposis in order to prevent malignancy. Although duodenal polyps can also develop cancer, this condition is typically treatable with regular polyp removal and careful monitoring.

Types and Symptoms

SYMPTOMS

In the early stages of the disease, many individuals show no symptoms. It’s possible that symptoms won’t show up until the disease has advanced.

  • Abdominal pain
  • Bloody stool
  • Bloating or fullness
  • Gas pain 
  • Unexplained diarrhea
  • Vomiting
  • Unexplained weight loss
  • Lethargy 

Other abnormalities in your body could be a sign that FAP is present. These abnormalities consist of the following:

  • lumps or bumps on the head, mouth, leg, or arm bone
  • teeth that do not fully form from the gums

Diagnosis & Medications

DIAGNOSIS

If you have a family member who has familial adenomatous polyposis, you could develop the disease yourself. It’s crucial to get screened frequently, beginning in childhood, if you’re at risk. Annual checks can identify polyp growth before it progresses to malignancy.

Genetic Testing

A straightforward blood test can tell you whether you possess the defective gene that causes FAP. You may be able to tell if you’re at risk for FAP issues through genetic testing. Your physician might advise genetic testing if:

  • You have relatives who have FAP.
  • You exhibit some, but not all, of the FAP symptoms.

Screening

  • Colonoscopy
  • Sigmoidoscopy
  • MRI or CT scan

TREATMENT

Your doctor will initially remove any tiny polyps discovered during your colonoscopy examination. But eventually, typically by your late teens or early 20s, the polyps will multiply to the point where they are too numerous to remove one at a time. You will then require surgery to stop colon cancer. If a polyp is malignant, surgery will also be required.

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