Life With Familial Polyposis: Diagnosis, Symptoms, & Treatment

Life with Familial Polyposis is no walk in the park. This condition involves constant screenings, tests, and a variety of invasive treatments, often eventually resulting in surgical removal of the colon to prevent the development of colon cancer. While this condition is relatively rare, it’s also important to take very seriously. That’s why today we’re discussing what this condition is, and how it affects your everyday life.

What Is Familial Polyposis?

Familial Polyposis (FAP), also known as familial adenomatous polyposis, is a genetic condition that runs in families. Though it’s most often passed down from one family member to the next, it can be a de novo (completely new) mutation. That’s it’s important to consider all possibilities, even if you have no known cases in your family. In fact, according to Fight Colorectal Cancer, up to a quarter of patients have no family history of the disease. 

In patients with FAP, there is a persistent, unchecked growth of polyp-like tissue一 not necessarily cancerous, malignant masses. However, patients with FAP have a mutation in a tumor suppressing gene, making it more likely that a polyp will turn into cancer.

What Does This Condition Have to Do With Colon Cancer?

Unfortunately, FAP is a genetic condition that will increase your risk of developing colon cancer. As mentioned above, FAP patients have a mutated gene that decreases their ability to fight off cancerous cells一 the immune system usually does have a capacity for this. FAP patients will need a cautious management plan to help protect them from developing colorectal cancer.

What Are the Symptoms of Familial Adenomatous Polyposis?

Most of the symptoms of FAP have to do with the growth of polyps in the intestines. If you have not been diagnosed with familial polyposis but are experiencing the symptoms below, schedule an appointment with a colorectal specialist as soon as possible.

  • Trouble or pain when defecating

  • Blood in the stool or black, tarry stools

  • Colorectal blockage and constipation that doesn’t resolve with normal methods

How Is Familial Polyposis Diagnosed?

If you don’t have a family history of FAP, how will your doctor know to test you for this condition? Generally, patients with recurring intestinal issues or blood in the stool end up receiving a colonoscopy一 this is where your doctor will discover that your bowels contain abnormally high amounts of polyps for someone of your age. At this point, your doctor may test your genes for the FAP marker, or it may be apparent enough to warrant a diagnosis.

How Is Familial Polyposis Treated?

FAP is generally caught very early in life一 this is incredibly important, too, because patients are less likely to develop colon cancer with a strict, rigid management plan. You and your doctor will work together to devise a treatment plan that works for your body, but most FAP patients end up doing the following:

  1. Complete or lower colonoscopy once yearly starting when the patient is ten.

  2. It is highly recommended that patients receive a preventative colectomy in order to reduce their risk of developing colon cancer.

  3. If there are no plans for a colectomy, the patient should continue to receive colonoscopies yearly.

  4. Thyroid ultrasound once per year.

  5. Regular upper endoscopies, starting at the age of 25 (every 6-12 months for someone with remaining colorectal tissue and every 1-4 years for someone without).

What Is A Colectomy?

Since patients with FAP are at a much higher risk of developing colorectal cancer, it’s often recommended that these patients have part or all of the colon removed. While a complete colectomy changes your way of life significantly (you’ll probably need a stoma bag), many patients prefer the change over a looming possibility of developing cancer. Much like preventative mastectomies for patients with a history of severe breast cancer, colectomies can help save lives.

FAP Management in Tampa Bay

Does anyone in your family have familial adenomatous polyposis? If so, you may have it, too; keep an eye out for the symptoms above and contact a colorectal specialist as soon as you notice the signs. Our professional physicians can help you create a management plan for your condition.