Familial Adenomatous Polyposis
Familial Adenomatous Polyposis

Video Endoscopic Sequence 1 of 12.

Familial Adenomatous Polyposis

This is a 16 year-old male, the paternal grandfather died of colon cancer, his father underwent abdominoperineal resection due to cancer of the rectum.

As in the other chapter of familial polyposis here include. A colonoscopy performed in retroflexed maneuver from the cecum to the rectum.

 


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Video clip of Familial Adenomatous Polyposis

Video Endoscopic Sequence 2 of 12.

Video clip of Familial Adenomatous Polyposis

Multiple adenomatous polyps of the rectum, retroflexed image.

Classic familial adenomatous polyposis, called FAP or classic FAP, is a genetic condition. It is diagnosed when a person develops more than 100 adenomatous colon polyps. An adenomatous polyp is an area where normal cells that line the inside of a person’s colon begin to make mucous and form a mass on the inside of the intestinal tract. The average age for polyps to develop in people with FAP is in the mid-teens. More than 95% of people with FAP will have multiple colon polyps by age 35. If FAP is not recognized and treated, there is almost a 100% chance that a person will develop colorectal cancer.

 

Video colonoscopy of Familial Adenomatous Polyposis

Video Endoscopic Sequence 3 of 12.

Video colonoscopy of Familial Adenomatous Polyposis

Two large sized pedunculated polyps are observed.

There is also an increased chance of developing cancer in the stomach and/or small intestines. Other types of cancer found in families with FAP include hepatoblastoma, a type of liver cancer seen in young children; desmoid tumors/desmoid fibromatosis, a locally aggressive tumor that does not metastasize; papillary thyroid cancer; pancreatic, adrenal, and bile duct cancers; and a low risk of a type of brain cancer called medulloblastoma.

 

 

 

Video colonoscopy of Familial Adenomatous Polyposis

Video Endoscopic Sequence 4 of 12.

Video colonoscopy of Familial Adenomatous Polyposis

Prognosis
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. This is why surveillance programs, especially after colectomy, are essential. Colectomy only addresses the risk of colon cancer development.

The cumulative probability of developing any type of a noncolorectal cancer, mostly periampullary tumors, is 11% by age 50 years and 52% by age 75 years.

 

Video colonoscopy of Familial Adenomatous Polyposis

Video Endoscopic Sequence 5 of 12.

Video colonoscopy of Familial Adenomatous Polyposis

Morbidity/mortality

The principal cause of mortality is colorectal cancer, which develops in all patients unless they are treated. The mean age at which colorectal cancer develops in patients with classic FAP is 39 years. Patients with adenomatous polyposis itself often are asymptomatic.

The second reported lethal complication of FAP is diffuse mesenteric fibromatosis and is referred to as a desmoid tumor. It involves intra-abdominal organs and vessels, causing gastrointestinal obstruction and constriction of veins, arteries, and ureters. Desmoid tumors are reported in 4-32% of patients. Even after the appropriate surgical treatment of FAP, 20% of patients may develop desmoid tumors after colectomy. Studies have not found a correlation between specific APC mutation sites and desmoid tumor development.[7] Risk factors include a positive family history. The mortality from these tumors is 10-50%. The second most common malignancy in patients with FAP is adenocarcinoma of the duodenum and the papilla of Vater. It affects as many as 12% of patients.

Rarer cancers associated with FAP include medulloblastomas (Turcot syndrome), hepatoblastoma, thyroid cancer, gastric cancer, pancreatic cancer, and adrenal cancer.

 

 

Video colonoscopy of Familial Adenomatous Polyposis

Video Endoscopic Sequence 6 of 12.

Video colonoscopy of Familial Adenomatous Polyposis

Complications

Complications of FAP include the following:

Colorectal cancer (100% in untreated patients) Duodenal or periampullary adenocarcinoma (4-12%) Desmoid formation (as many as 20%, typically postcolectomy) Other cancers, including medulloblastoma, hepatoblastoma, thyroid cancer, gastric cancer, pancreatic cancer, and adrenal cancer Development of rectal cancer in patients with a retained rectum.

 

Video colonoscopy of Familial Adenomatous Polyposis

Video Endoscopic Sequence 7 of 12.

Video colonoscopy of Familial Adenomatous Polyposis

Ciego There are tiny polyps, some were cauterized with loop diathermy. Appendix hole is observed.

Nonspecific symptoms, such as unexplained rectal bleeding (hematochezia), diarrhea, or abdominal pain, in young patients may be suggestive of FAP.


Video Endoscopic Sequence 8 of 12.

Video colonoscopy of Familial Adenomatous Polyposis

The terminal ileum is observed

Other conditions that should be considered in the differential diagnosis of familial adenomatous polyposis include the following:

Bannayan-Riley-Ruvalcaba syndrome
Juvenile polyposis syndrome
Hereditary nonpolyposis colon cancer
Hyperplastic polyposis
Nodular lymphoid hyperplasia
Lymphomatous polyposis
Inflammatory polyposis
MYH-associated polyposis

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Video colonoscopy of Familial Adenomatous Polyposis

Video Endoscopic Sequence 9 of 12.

Video colonoscopy of Familial Adenomatous Polyposis

When polyps are found, the only effective treatment is surgical removal of the large bowel because the polyps are too numerous and fast-growing to be removed individually by colonoscopy. While the prospect of surgery may be upsetting, it is important to realize that without it, colon cancer is inevitable.

With surgery, colon cancer can be prevented. There are two main types of operations used in treating FAP, and your physician will recommend which one is best for you. These operations can often be done laparoscopically, making the procedure less painful and less debilitating.

 

A colonoscopy performed in retroflexed maneuver from

Video Endoscopic Sequence 10 of 12.

A colonoscopy performed in retroflexed maneuver from
the cecum to the rectum

This video clip shows a complete colonoscopy in retroflexed maneuver, is observed from the cecum to the rectum, just as in 2002, we practice other in another case of familial polyposis see this in our chapter one of this pathology.

This colonoscopy was in 2015

Video colonoscopy of Familial Adenomatous Polyposis

Video Endoscopic Sequence 11 of 12.

Video colonoscopy of Familial Adenomatous Polyposis

Two polyps, both larger and wide pedicle, which decided to remove by endoscopic polypectomy are observed.

Removing polyps large and regular endoscopic surveillance may delay the time of removing the colon, thus giving chance for children and adolescents to complete their growth.

Characteristic pathology of a polyp from patients with FAP is a tubular adenoma.

Video colonoscopy of Familial Adenomatous Polyposis

Video Endoscopic Sequence 12 of 12.

Video colonoscopy of Familial Adenomatous Polyposis

Polypectomy of the two larger polyps, also we removed some small size, some of cauterized with cautery. As well as the cecum.

Although it is advisable to remove the colon in this polyposis, if there is a close eye and remove polyps with suspected degeneration weather could delay the surgery until the person has completed their bone growth.

As long as the person has access to a colonoscopist with therapeutic skills.

 

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