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Familial Adenomatous Polyposis | Overview

What is familial adenomatous polyposis?

Familial adenomatous polyposis (FAP) is a rare genetic condition associated with the growth of dozens to hundreds of polyps (abnormal growths or tumors) in the gastrointestinal (GI) tract. In FAP, the polyps are called adenomas, which typically begin to form in late childhood or early adolescence. If the entire colon is not removed, almost everyone who is diagnosed with FAP inevitably develops colorectal cancer by the age of 40-50 years.

These adenomas are generally found in the large intestine. However, many patients also develop polyps in other areas of the GI tract, such as the stomach and small intestine. The risk of developing cancer in these areas is much less than in the large intestine.

FAP occurs in approximately 1 in 10,000 people and affects both males and females equally. The condition is responsible for less than 1 percent of cases of colorectal cancer.

What causes FAP

FAP is caused by a defective gene called adenomatous polyposis coli (APC) that can cause of group of polyposis conditions with similar features:

  • Gardner syndrome: A form of familial adenomatous polyposis (FAP) that causes multiple colorectal polyps and different types of tumors — both cancerous and non-cancerous.
  • Turcot syndrome: A condition often associated with FAP. Children with this syndrome have multiple adenomatous polyps, an increased risk of colorectal cancer and an increased risk of brain cancer.
  • Attenuated FAP (AFAP): A milder kind of FAP characterized by fewer polyps and the development of colorectal cancer at a later age. Less than 10 percent of families with FAP have an attenuated form.
  • MYH Gene: An autosomal recessive condition in which both parents have to be carriers. Each individual offspring has a 25 percent risk of inheriting the condition.

FAP is an autosomal dominant condition, meaning that it can be passed down through families. If a child inherits the gene from one parent, there is a 50 percent they will have FAP. In some instances, FAP is not inherited but rather the result of a gene change, known as a mutation.

What are the symptoms of FAP?

There may be no symptoms in the early development of FAP, so often times it goes undetected. Abnormal signs and symptoms that may develop in the course of the disease include:

If your child has FAP, they may have other abnormal growths or lesions in other areas of the body, such as the thyroid, eyes, bone, teeth, brain, liver and skin. These can be either benign (non-cancerous) or malignant (cancerous) lesions.

Types of these lesions are listed below in order from most common to least common.

Benign (non-cancerous) lesions

  • small black dots in the back of the eye (congenital hypertrophy of the retinal pigmented epithelium or CHRPE)
  • fluid sac on the surface of the skin (epidermoid cysts)
  • abnormal bone growth (osteoma)
  • extra teeth (supernumerary teeth)
  • tumor in the abdominal wall (desmoid tumor)
  • tumor in the adrenal gland (adrenal gland adenomas)

Malignant (cancerous) lesions

How we care for FAP

The Boston Children's Hospital Polyposis Program was created to provide the highest quality comprehensive care to children with FAP. Our program is unique among polyposis programs in the U.S for its pediatric-focus and deep resources — from gastroenterology to radiology to genetics to surgery. We have the full spectrum of care and the benefit of working in close collaboration with one of the top cancer centers in the country that treats adults with FAP — Dana-Farber Cancer Institute.

Familial Adenomatous Polyposis | Diagnosis & Treatment

 

How is familial adenomatous polyposis diagnosed?

Children are tested for familial adenomatous polyposis (FAP) by performing a colonoscopy. A doctor uses a long, flexible tube with a light and camera on the end to look inside the rectum and up into the large intestine. An upper GI endoscopy is often done at the same time. An upper GI endoscopy also uses a long, flexible tube but looks down into the esophagus (food tube), stomach, and small intestine.

Another way to check for FAP is by genetic testing. Detection of the gene mutation is very accurate, detecting approximately 95 percent of cases and with 98 percent accuracy. Other screening studies may include radiology imaging.

When should my child be tested for FAP?

Children should be screened for FAP if there is a family history of FAP or colon cancer at a young age, or if they have any unusual growths or lesions. An initial screening should be done:

  • by 8 to 10 years of age for a child with a high-risk family history
  • by 10 to 12 years of age for an average-risk patient
  • at the time of first symptoms

Average and high-risk patients are determined based on family history or known high-risk gene mutations.

What are the treatment options for FAP?

The most important treatment for FAP is the early removal of the entire colon (prophylactic colectomy) to prevent the development of cancer. The timing of surgery is based on the patient’s age or other high-risk factors, including family history, polyp number, and pre-malignant changes in the polyps.

There is no cure for FAP. Treatment is directed to reduce complications, such as cancer, abdominal pain, bowel obstruction, and GI bleeding.

 

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