HWN Suggests

Researchers at KU Medical Center work to discover treatments for people with a rare condition that leads to colon cancer

Polyps are fairly common, but only between 5% and 10% turn into cancer, and it can take years for that cancer to develop.

But for people with familial adenomatous polyposis, a hereditary genetic condition that accounts for 1% of all people diagnosed with colon cancer, the risk of cancer skyrockets. Caused by a defect in a gene known as APC (adenomatous polyposis coli), familial adenomatous polyposis causes hundreds and often thousands of polyps to form throughout the gastrointestinal tract, which is why for these patients, preventing colon cancer is a constant endeavor. People with familial adenomatous polyposis may be diagnosed while they are still in grade school, either because…

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 New approaches to managing familial adenomatous polyposis (FAP)

“The problem is that it’s a lifelong intervention, and it stops working after some time,” Vilar-Sanchez says. To improve efficacy, combinations with sulindac can be tried, including with the targeted therapy erlotinib or difluoromethylornithine (DFMO for short). But Vilar-Sanchez hopes for more. “It’s the most challenging situation in the field right now,” he says.

Articles of Interest

What is FAP Syndrome?

In people with classic FAP, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. They could also develop noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by colon removal surgery.

Familial adenomatous polyposis

Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, it manifests equally in both sexes, and accounts for less than 1% of colorectal cancer (CRC) cases.

Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations

In the 1950s, Dr Eldon Gardner investigated the history of families affected by FAP and defined Gardner syndrome as the association of intestinal polyps, extracolonic growths, osteomas, and skin manifestations. A wide array of FAP-associated findings have since been described including bone abnormalities, thyroid and pancreatic cancers, odontomaxillary complications, and desmoid fibromatosis tumors. Gardner syndrome is now of historical interest rather than clinical significance,

The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management

Familial adenomatous polyposis (FAP) refers to an inherited syndrome characterized by the development of multiple adenomas in the colorectum, a high risk of colorectal cancer (CRC), and the existence of extracolonic manifestations. Germline adenomatous polyposis coli (APC) mutations were firstly described in 1991.

Updated Perspectives on the Diagnosis and Management of Familial Adenomatous Polyposis

The gold-standard treatment to reduce this risk is prophylactic colectomy, typically by the age of 40. However, colectomy is linked to morbidity and constitutes an ineffective way at preventing extra-colonic disease manifestations, such as desmoid disease, thyroid malignancy, duodenal polyposis, and cancer.

Desmoid Tumors: The Basics

Desmoid tumors are rare and locally-aggressive growths. They are not commonly known or understood, and being diagnosed with one can leave you with more questions than answers. Doctors have described desmoid tumors as having “tendril-like” growths because of how they look and how they can invade surrounding parts of your body. These “tendrils” can grow unpredictably.

Family Shares Its History Of Disease to Help Others

People with familial ademomatous polyposis, or F.A.P., have had long, sad family histories. Relative after relative has died of colon cancer. Parents with their colons removed in young adulthood passed the disease on to their children, who had the same terrible condition.

Resources

Familial Adenomatous Polyposis and Desmoid Tumour Support Group

For people with FAP and Desmoids and also their family if you want to chat and ask questions and really to support each other.

Familial Adenomatous Polyposis Support Group

I feel it is very important to educate people on this disease, not only for the suffers who have it now, but for families in the future because as I have rather painfully realized it can happen to anybody!

FAP Awareness

Daily FAP relatable memes for laughs, news for updates, and motivation to keep strong.

Know Your Biomarker

FAP is a hereditary syndrome of very high colorectal cancer risk. FAP causes numerous abnormal growths, called adenomatous polyps, in the colon and rectum that will become colorectal cancer if left untreated. FAP is also associated with increased risk of other gastrointestinal cancers, pancreatic cancer, liver cancer, and bile duct cancer, as well as several types of benign tumors.

StatPearls

Familial adenomatous polyposis (FAP) or familial polyposis coli (FPC) is an autosomal dominant polyposis syndrome with varying degrees of penetrance. If untreated, patients will develop hundreds to thousands of polyps throughout the colon and rectum. Polyps often develop in the early teenage years and result in a nearly 100 percent lifetime risk of colorectal cancer by age forty if untreated.