Attenuated familial adenomatous polyposis (AFAP) is a rare inherited condition that increases the likelihood of developing cancer of the large intestine and rectum. AFAP is considered to be a phenotypic variant of familial adenomatous polyposis (FAP). AFAP is differentiated from FAP via its fewer presenting colon polyps, about 30 on average, and delayed development of colon cancer, an average presentation age of 50-55 years old. In less common cases, patients with AFAP can experience similar symptoms to those with FAP. AFAP is caused by a mutated APC gene and is heritable in the autosomal dominant pattern. The APC or adenomatous polyposis coli gene is responsible for coding for the APC protein which acts as a tumor suppressor and helps control rogue cell growth. Mutations on the APC gene have been found to exist in most cases of heritable colon cancers. Symptoms of AFAP include adenomatous colonic polyposis (growths that develop on the mucous membrane that lines the large intestine), colorectal polyposis, colon cancer, duodenal polyposis, and multiple gastric polyps. Polyps are small growths that are typically benign but can be cancerous that protrude from a mucous membrane. AFAP is generally managed with regular screening to detect polyp development. Screening by colonoscopy has been recommended for affected people starting at age 20 to 25. Patients may also undergo polypectomy, removal of polyps, followed by continued screenings every one to three years, depending on the number and frequency of polyp formation. A prophylactic colectomy, removal of all or part of the colon, may be considered in people with too many adenomas to remove or those who cannot undergo screening.
In this special Rare Disease Day edition, I would like to highlight the incredible story of a Rare Disease advocate with Attenuated familial adenomatous polyposis. Dan “Dry Dock” Shockley is an Iraqi Freedom veteran who was diagnosed with AFAP and has had an incredible eight-year recovery story and journey. Before Dan underwent his first colonoscopy in 2012 he considered himself to be in “good health [with] no signs of any medical problems or family history”. Ultimately, the results of the test revealed 100 polyps embedded throughout his colon, rectum, and anus. In his case due to the overwhelming number of polyps, Dan underwent a proctocolectomy with ileostomy surgery. An ileostomy just describes the medium in which the surgeon accessed the small intestine. In Dan’s case, just like every cancer patient, it is crucial to remove all of the cancerous tissues as any remaining tissue could develop into a resurgence of cancer. Dan’s surgery was a success and, as we had discussed earlier, Dan must undergo regular endoscopic surveillance in order to ensure no new polyp formation has occurred. In Dan’s case, this included an EGD which is an esophagogastroduodenoscopy and essentially examines the upper gastrointestinal tract. In more recent times, Dan continues to use his rare disease diagnosis in order to help spread awareness for all rare diseases and has been involved in countless forms of media looking to spread awareness of rare diseases around the world. Dan serves as an excellent example of using what makes you different to help others and he continues to “Always Forge Ahead with a Purpose”.
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