What are symptoms of familial adenomatous polyposis?

Familial Adenomatous Polyposis Symptoms

• Bloody stool.
• Unexplained diarrhea.
• A long period of constipation.
• Abdominal cramps.
• Decrease in size or caliber of stool.
• Gas pain, bloating, fullness.
• Unexplained weight loss.
• Lethargy and vomiting.

What is familial adenoma polyposis?

Familial adenomatous polyposis (FAP) is a rare inherited cancer predisposition syndrome characterized by hundreds to thousands of precancerous colorectal polyps (adenomatous polyps). If left untreated, affected individuals inevitably develop cancer of the colon and/or rectum at a relatively young age.

What does familial adenomatous polyposis mutation mean?

Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon ) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps ) in the colon as early as their teenage years.

What is the prognosis of familial adenomatous polyposis?

Eventually, one or more of these adenomas will become cancerous. Without treatment, patients with FAP have a nearly 100% lifetime risk of colorectal cancer. The chance of developing colorectal cancer increases with age; the average age at which people are diagnosed with cancer is 39.

Is familial adenomatous polyposis a rare disease?

Familial adenomatous polyposis (FAP) is a rare, inherited condition caused by a defect in the adenomatous polyposis coli (APC) gene. Most people inherit the gene from a parent. But for 25 to 30 percent of people, the genetic mutation occurs spontaneously.

Is familial adenomatous polyposis a disability?

While the Social Security Administration does not list FAP specifically as a disabling condition, it does list intestine and colorectal cancer as a condition which can be disabling when the symptoms interferes with the person’s ability to engage in sustained work activity.

Is FAP a death sentence?

Patients with untreated FAP have a median life expectancy of 42 years. Life expectancy is extended greatly in those treated with colectomy. Upper gastrointestinal cancers and desmoid tumors are the most common causes of death in patients who have undergone colectomy.

Is 100 polyps a lot?

Classic FAP is a clinical diagnosis. This means that it is typically diagnosed when the doctor finds many colorectal polyps, rather than by the results of a laboratory test. A person with more than 100 adenomatous colon polyps is considered to have FAP.

How serious is a precancerous polyp?

Adenomas: Two-thirds of colon polyps are the precancerous type, called adenomas. It can take seven to 10 or more years for an adenoma to evolve into cancer—if it ever does. Overall, only 5% of adenomas progress to cancer, but your individual risk is hard to predict.

Is FAP serious?

Of the three, FAP itself is the most severe and most common; although for all three, the resulting colonic polyps and cancers are initially confined to the colon wall. Detection and removal before metastasis outside the colon can greatly reduce and in many cases eliminate the spread of cancer.

Is familial adenomatous polyposis curable?

Follow-up treatment Surgery doesn’t cure FAP. Polyps can continue to form in the remaining or reconstructed parts of your colon, stomach and small intestine. Depending on the number and size of the polyps, having them removed endoscopically may not be enough to reduce your risk of cancer.

What kind of cancer is familial adenomatous polyposis?

Familial Adenomatous Polyposis Cancer Colon Cancer Genetic Disorders Familial adenomatous polyposis (FAP) is an inherited condition that affects the gastrointestinal tract. FAP leads to hundreds or thousands or polyps inside the colon or rectum.

How does APC gene work in familial adenomatous polyposis?

Most people without familial adenomatous polyposis carry two working copies of the APC gene in their cells. One copy is inherited from the mother and one from the father. Cells from people with familial adenomatous polyposis carry one working copy of APC and one copy that is changed. This change causes the gene to not work properly.

How old do you have to be to have adenomatous polyposis?

[2] The signs and symptoms of familial adenomatous polyposis (FAP) vary both within families and between families. Classic FAP is characterized primarily by hundreds to thousands of noncancerous (benign) polyps (growths) in the colon that begin to appear at an average age of 16 years.

What are the side effects of adenomatous polyposis?

In addition to colon cancer, familial adenomatous polyposis can cause other complications: Duodenal polyps. Periampullary polyps. Gastric fundic polyps. Desmoids. Other cancers. Noncancerous (benign) skin tumors. Benign bone growths (osteomas). Congenital hypertrophy of the retinal pigment epithelium (CHRPE). Dental abnormalities.