Familial Polyps and Colorectal Cancer Risk

Familial Polyposis and Colorectal Cancer

Hello Doctor: My grandmother passed away from colon cancer in her 40s.
My uncle and aunt had benign polyps detected in their early 50s, which were removed when they were only a few millimeters in size and everything was fine.
However, another uncle (in his 50s) was recently diagnosed with stage I colon cancer.
I would like to ask if this family history qualifies as familial adenomatous polyposis (FAP)? According to the information I've read, such polyps typically begin to develop in adolescence.
Should I undergo a colonoscopy? If so, at what age should I start, and how often should I have screenings? Thank you, Doctor.

Xiao Guai, 20~29 year old female. Ask Date: 2016/12/12

Dr. Ke Fangxu reply Surgery

Familial adenomatous polyposis (FAP) is an autosomal dominant genetic disorder characterized by the presence of hundreds to thousands of polyps in the colon, each typically measuring less than 1 centimeter.
By the age of 15, approximately 50% of patients will develop polyps, and by age 35, 90% will exhibit some gastrointestinal symptoms.
Most patients are diagnosed with colorectal cancer by around age 40.
To determine if a patient has familial adenomatous polyposis, genetic screening or initial colonoscopy is required to check for the aforementioned conditions.
If diagnosed, patients should undergo colonoscopy every six months.
The primary medical treatment for familial adenomatous polyposis involves the use of Sulindac, a non-steroidal anti-inflammatory drug (NSAID).
Current evidence-based research indicates that these NSAIDs are effective in managing familial adenomatous polyposis and can reduce the incidence of colorectal cancer.
The risk of developing colorectal cancer in patients with familial adenomatous polyposis is extremely high, and treatment primarily involves colectomy, with prophylactic total colectomy being the generally recommended surgical approach.

Reply Date: 2016/12/12

More Info

Familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (Lynch syndrome) are two primary hereditary conditions associated with an increased risk of colorectal cancer. Given your family history, it is essential to understand the implications of these conditions and the recommended screening protocols.

Based on the information you provided, your grandmother passed away from colorectal cancer at a relatively young age, and you have multiple family members with a history of colorectal polyps and cancer. This raises the question of whether your family might be affected by a hereditary condition like FAP or Lynch syndrome.
FAP is characterized by the development of hundreds to thousands of adenomatous polyps in the colon, typically starting in adolescence or early adulthood. If left untreated, these polyps almost invariably progress to colorectal cancer, often by the age of 40. On the other hand, Lynch syndrome is associated with a higher risk of several cancers, including colorectal cancer, but does not necessarily present with numerous polyps.

In your case, the presence of a family member diagnosed with stage I colorectal cancer and others with benign polyps suggests a potential hereditary predisposition, but it does not definitively indicate FAP. The fact that your relatives had benign polyps and not the classic presentation of FAP (which would involve numerous polyps) may suggest a different hereditary risk, possibly Lynch syndrome or simply a familial clustering of colorectal cancer without a defined syndrome.

Given your family history, it is advisable to undergo genetic counseling. A genetic counselor can assess your family's cancer history in detail and may recommend genetic testing for conditions like FAP or Lynch syndrome. If a hereditary syndrome is confirmed, this will guide your screening recommendations.

Regarding screening, the general guidelines for individuals with a family history of colorectal cancer suggest starting colonoscopy screening at an earlier age than the general population. For those with a first-degree relative diagnosed with colorectal cancer, screening typically begins at age 40 or 10 years younger than the age at which the relative was diagnosed, whichever comes first. In your case, since your grandmother had colorectal cancer in her 40s, it would be prudent to begin screening at age 30 or earlier, depending on the advice of your healthcare provider.

The frequency of colonoscopy screenings can vary based on findings. If polyps are found, especially if they are adenomatous, follow-up colonoscopies may be recommended every 3 to 5 years. If no polyps are found, the interval may be extended to every 5 to 10 years, depending on your overall risk profile.

In summary, given your family history of colorectal cancer and polyps, it is crucial to discuss your concerns with a healthcare provider. They can help determine the need for genetic counseling and establish an appropriate screening schedule tailored to your risk factors. Early detection through regular screenings can significantly reduce the risk of developing colorectal cancer, especially in individuals with a family history of the disease.

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