evidence & education - scientific literature & patient education texts | FAPvoice

welcome to FAPvoice

- a positively charged Familial Adenomatous Polyposis community.
  • join today!

Colorectal cancer in familial adenomatous polyposis is a preventable disease in at-risk relatives of patients with primary cases. Until the recent establishment of a register in Western Australia, there has been no registration of pedigrees or central organization of surveillance in Australia. In the present study, the experience of 20 such families who were associated with The Royal Melbourne Hospital was documented, with an analysis of the reas...

OBJECTIVES: Empirical research shows that patients with severe illnesses prefer the physician to dominate decision processes and provide the information needed. However, in rare diseases, due to the low prevalence and the lack of expertise, the patient is forced to become knowledgeable about his own disease state. Objectives of this study were to describe the experiences of patient-physician interaction in rare diseases, to develop an empiricall...

Background/Aims: Desmoid tumors (DTs) are rare, locally invasive neoplasms that may affect 10-25 % of familial adenomatous polyposis (FAP) patients. Our aim was to evaluate incidence and clinical presentation among our patients, the potential impact on FAP outcome and to discuss treatment. Materials and methods: Charts from 133 FAP (1977-2013) were reviewed. Patients with DTs were separated to retrieve demographic, clinical and management data...

The field of endoscopy has revolutionized the diagnosis and treatment of gastrointestinal (GI) diseases in recent years. Besides the ‘traditional’ endoscopic procedures (esophagogastroduodenoscopy, colonoscopy, flexible sigmoidoscopy, and endoscopic retrograde cholangiopancreatography), advances in imaging technology (endoscopic ultrasonography, wireless capsule endoscopy, and double balloon enteroscopy) have allowed GI specialists to detect...

Familial adenomatous polyposis (FAP) is a hereditary condition transmitted in an autosomal dominant fashion, which is characterized by the appearance of numerous adenomatous polyps in the colon. This condition results from mutation of the APC gene and accounts for 1% of cases of colorectal cancer.1...

Congenital hypertrophy retinal pigment epithelium (CHRPE) is a benign lesion of the optic fundus, which typically has no clinical signifi cance. However, the recent development of CHRPE is oft en associated with familial adenomatous polyposis (FAP). Th ere are no reports of its association with a solitary colonic neoplasm. To our knowledge, we present the fi rst case of new CHRPE-like lesions as a presenta-tion of a solitary colonic pre-neoplasm....

view all (467)

Eat 6 to 8 small meals a day Eating small, frequent meals will put less stress on your shortened bowel. Small meals help control your symptoms, and will result in better digestion and absorption. Eat slowly and chew your food well. Once your bowel has adapted, you can resume having 3 meals a day.

This guide provides some basic information about the effects ostomy surgery has on digestion and food absorption. After healing is complete and the ostomy is functioning normally, most people with ostomies can return to a normal diet. If you have a special diet because of heart disease, diabetes or other health problems, you should ask your doctor about a diet that will work with both that problem and your ostomy.

This clinical practice guideline is based on the collaborative efforts of the Belgian Health Care Knowledge Centre (KCE), the College of Human Genetics and the College of Oncology. This guideline complements the recently published practice guideline for colorectal cancer and is a first report in a short series of oncogenetic testing guidelines.

People who have a genetic diagnosis of familial adenomatous polyposis (FAP), or are at risk of having FAP but genetic testing has not been performed or is not feasible, should have annual sigmoidoscopy, beginning at age 10 to 12 years, to determine if they are expressing the genetic abnormality. Genetic testing should be considered in patients with FAP who have relatives at risk. Genetic counseling should guide genetic testing and considerations...

The purpose of this report is to provide an evidence-based summary of current New Zealand and overseas evidence to inform best practice in providing colonoscopic surveillance for people who are at increased risk of developing colorectal cancer. Improving early detection and diagnosis of cancer, and improving access to timely and appropriate treatment are identified as goals of the New Zealand Cancer Control Strategy Action Plan 2005–2010.1

The New Brunswick Cancer Network (NBCN) recognizes the importance of prevention and screening in reducing the burden of cancer for New Brunswickers. Historically, colon cancer screening in the province has been done in an opportunistic fashion, driven primarily by the relationship between patients and their primary care providers. Subsequent to the announcement in 2009 to establish a provincial Colon Cancer Screening Program (CCSP) for New Bruns...

view all (32)

To be completely honest, I have no idea how to introduce myself or the disorders and conditions I deal with on a day to day basis. It can be challenging for anyone, myself included, regardless of the condition, disorder, or disease, to primarily categorize themselves upon first introduction. Do I say, “I suffer from…” or “I have to deal with…” or even something sassy to illicit a laugh when explaining a potentially life-threatening...

“You’re making poor choices for a 22-year-old.” Those words have stuck with me for five years since I came in to see you, looking for an answer to my long list of ongoing symptoms, many terrifying and embarrassing to say out loud. Instead of getting an answer, you limited your investigation to my diet and exercise routine, because at my age that had to be the only reason why I was experiencing debilitating, red-flag symptoms. I left t...

I was lucky enough to spend a little time with two of our community members and FAP patients, Jenny Jones (lifesapolyp.blogspot.com/) and Tracy Whitt, to learn how they manage their FAP while still enjoying the summer months. My interview with Jenny is below, and you can find my...

I was lucky enough to spend a little time with two of our community members and FAP patients, Tracy Whitt and Jenny Jones, to learn how they manage their FAP while still enjoying the summer months. My interview with Tracy is below. You can find my interview with Jenny...

Click here to view our Spring 2017 FAPtalk Newsletter, the seasonal newsletter for those living with Familial Adenomatous Polyposis (FAP). Want to SUBMIT your story? Everyone is welcome! Just follow these guidelines: Attach your te...

We all know our poop says important things about us so why can’t we say important things about poop to others? In honor of Colon Cancer Awareness Month, here’s a guide on communicating about stool and two of the organs it travels through with everyone who poops (a.k.a., everyone).

view all (105)

Poster Presentation Objective: This study aims to examine colonic polyp phenotype, the surgical outcomes, and the reasons for colectomy in individuals with attenuated familial adenomatous polyposis (AFAP). Methods: Colonoscopy and colectomy medical records were obtained for 197 individuals with a known genetic mutation in the region of the APC gene causative of AFAP. Results: The number o...

Poster Presentation Familial Adenomatous Polyposis Syndrome (FAP) is an autosomal dominant inherited hereditary colorectal cancer syndrome that is characterized by hundreds to thousands of adenomatous colonic polyps and, without treatment and close surveillance, confers a high lifetime risk of colon cancer. Polyps usually develop in adolescence and virtually all will develo...

Poster Presentation Background: Mutations in the APC gene lead to Familial adenomatous polyposis (FAP) and an attenuated form of this condition (AFAP). Based on previous work with mutation-verified patients from a large AFAP kindred, we showed that AFAP patients may be under-diagnosed, in the absence of a genetic diagnosis. For example, for patients between 30 and 79 years of age, 28% had fewer than 10 adenomas; 22% ha...

Poster Presentation Background: MUTYH-associated polyposis (MAP) is an autosomal recessive disorder that is caused by germline mutations in the base excision repair gene MUTYH. Phenotypic expression is usually that of an attenuated polyposis syndrome with anywhere from 3-100+ polyps and mixed pathology including tubular adenomas, sessile serrated adenomas, and/or hyperplastic polyps. The use of non-steroidal anti-inflammatory...

Poster Presentation Background: Patients with familial adenomatous polyposis (FAP) are perceived to be at increased risk for developing thyroid cancer. However, screening guidelines for thyroid cancer in FAP patients are not well established. To report the prevalence of thyroid cancer and benign thyroid disease in FAP patients in a single-center hereditary colorectal cancer registry. Methods: A ret...

Poster Presentation Background: Individuals with familial adenomatous polyposis (FAP) require increased lifelong surveillance due to the high risk of colorectal cancer and extracolonic features. Despite the existence of well-established surveillance guidelines, studies have shown that lack of patient knowledge is a major hurdle to adherence. Patient education conferences represent an avenue for patients to obtain disease-spec...

view all (19)

The distinction between benign and malignant tumors is classically based on the metastatic potential of a tumor type. While desmoid tumors do not metastasize and as such are classified as benign lesions, their clinical behavior, cellular biology, and molecular etiology all share more characteristics with malignancies than benign processes. Research into these aspects of desmoid tumor biology has the potential not only to develop better treatments...

Inflammatory bowel disease (IBD) and familial adenomatous polyposis (FAP) are complex diseases, which are subject to numerous medical researches. Despite increased knowledge on the pathophysiological process, many aspects remain rather unclear, especially concerning IBD. The genetic basis of FAP is well known, but there is still debate about IBD, which seems.

The adenomatous polyposis coli (APC) gene is mutated in the germline of patients with hereditary disease familial adenomatous polyposis (FAP) and also been implicated in the pathogenesis of sporadic colorectal cancers. The APC gene in FAP provides a reasonable candidate for a preventive gene therapy strategy, since APC mutations appear to be fundamental to the early stages of all types of colorectal carcinogenesis, whether familial or sporadic....

Thirty-eight published papers, co-authored by Allan D. Spigelman, 1989-1994, covering these subjects: adenoma, familial diseases, intestinal polyps

A 20-page book with illustrations

The book covers these subjects: Intestinal Polyps, Familial Polyposis Syndrome

view all (32)