Department of Surgery Grand Rounds
January 21, 2016

Emily Steinhagen, MD
Chief Resident, General Surgery
Icahn School of Medicine at Mount Sinai

Objectives:
-Describe adenomatous polyposis syndromes
-Identify challenges in management of polyposis patients

Attenuated (Mild Type) Familial Adenomatous Polyposis

Colorectal cancers usually develop from polyps. If there is an adenomatous polyp, that means there is a risk of cancer. This is bad news. The good news is that removing polyps eliminates the risk of cancer.

Polyps are best diagnosed with colonoscopy and can be removed with the help of colonoscopy. If there are too many polyps that cannot be removed by colonoscopy, the large intestine including the polyps should be surgically removed.

Some genetic diseases can cause huge numbers of polyps in the large intestine. These genetic diseases pass from the parents to their children.

A genetic disease that causes more than 100 polyps in the large intestine is called familial polyposis. There is also a mild type of this disease. In the mild type, the number of polyps in the large intestine is between 20 and 100.

If measures are not taken in familial polyposis, the risk of large bowel cancer is 100%. Even in the mild form, the risk of colorectal cancer is almost 70%. In order to eliminate the risk of cancer in patients with polyposis, the large intestine should be surgically removed.

Following removal of the large intestine, a connection between the small intestine and the last part of the large intestine allows the patient to continue his life without a stoma.

In this video, images of the removed large intestine in a patient with mild-type familial polyposis are shared.

The connection between the small intestine and the last part of the large intestine ensured the patient to continue his life without an abdominal stoma.

In this video, I'll be discussing my reasons for continuing to practice NoFap. Despite the initial challenges, I've found that it's been one of the best decisions I've ever made in my life. I'll explain why it's been so successful for me, and how you can make the same decision.

If you're curious about the benefits of NoFap, or whether it's the right decision for you, then this video is for you! I hope you learn a lot from it, and that you enjoy it as much as I do!

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Chapters

0:00 Introduction
0:56 Symptoms of Familial Adenomatous Polyposis
2:20 Diagnosis for Familial Adenomatous Polyposis
2:50 Treatment for Familial Adenomatous Polyposis




Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition in which numerous adenomatous polyps form mainly in the epithelium of the large intestine. While these polyps start out benign, malignant transformation into colon cancer occurs when they are left untreated. Three variants are known to exist, FAP and attenuated FAP (originally called hereditary flat adenoma syndrome[1]) are caused by APC gene defects on chromosome 5 while autosomal recessive FAP (or MUTYH-associated polyposis) is caused by defects in the MUTYH gene on chromosome 1. 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.

The root cause of FAP is understood to be a genetic mutation—a change in the body's tumour suppressor genes that prevent development of tumours. The change allows numerous cells of the intestinal wall to develop into potentially cancerous polyps when they would usually reach the end of their life; inevitably one or more will eventually progress and give rise to cancer (7% risk by age 21, rising to 87% by age 45 and 93% by age 50). These gene changes do not trigger cancer, but rather, they reduce the body's ability to prevent cells from becoming cancerous. Even with the gene change, it may still take time before a cell actually does develop that is cancerous as a result, and the gene may in some cases still partially operate to control tumours, therefore cancer from FAP takes many years to develop and is almost always an adult-onset disease.

The second form of FAP, known as attenuated familial adenomatous polyposis has the APC gene functional but slightly impaired. It is therefore somewhat able to operate as usual. Attenuated FAP still presents a high 70% lifetime risk of cancer (as estimated), but typically presents with far fewer polyps (typically 30) rather than the hundreds or thousands usually found in FAP,[2] and arises at an age when FAP is usually no longer considered likely—typically between 40 and 70 years old (average 55[3]) rather than the more usual 30s upward. Because it has far fewer polyps, options for management may be different.[2]

The third variant, autosomal recessive familial adenomatous polyposis or MUTYH-associated polyposis, is also milder and, as its name suggests, requires both parents to be 'carriers' to manifest the condition.

In some cases FAP can manifest higher in the colon than usual (for example, the ascending colon,[citation needed] or proximal to the splenic flexure, or in the stomach or duodenum[1]) where they show no symptoms until cancer is present and greatly advanced. APC mutations have been linked to certain other cancers such as thyroid cancer. As the mutation causing FAP is autosomal dominant, it can be inherited directly from either parent to a child. A genetic blood test of the APC gene exists that can determine whether it is present, and therefore can predict the possibility of FAP. Individuals at risk (due to family links or genetic testing) are usually offered routine monitoring of the intestinal tract every 1–3 years for life, from puberty for FAP and early adulthood for attenuated forms. Colon resection surgery is recommended if numerous colon polyps are found due to high risk of early death from colon cancer. International polyposis registries exist that track known cases of FAP or APC gene defects, for research and clinical purposes. Mutation of APC also occurs commonly in incident cases of colorectal carcinoma, emphasizing its importance in this form of cancer.