Materiały źródłowe

• #1 Familial adenomatous polyposis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/familial-adenomatous-polyposis/symptoms-causes/syc-20372443

  Preventing FAP is not possible, since it is an inherited genetic condition. However, if you or your child is at risk of FAP because of a family member with the condition, you will need genetic testing and counseling. […] If you have FAP, you will need regular screening, followed by surgery if needed. Surgery can help prevent the development of colorectal cancer or other complications.

• #1 Familial Adenomatous Polyposis: Alarming Symptoms, Causes, Types, Diagnosis and Treatment – OncoDaily

  https://oncodaily.com/oncolibrary/cancer-types/familial-adenomatous-polyposis

  Regular screenings are the most effective way to prevent FAP-related cancers. Since FAP leads to the development of hundreds to thousands of polyps in the colon, which can become cancerous, early detection is vital. Colonoscopy is the gold standard for familial adenomatous polyposis management and screening. […] Genetic testing and counseling: Family members of FAP patients should consider genetic testing to determine whether they have inherited the APC gene mutation. Early detection of mutations allows for proactive surveillance and preventive care, including early surgical interventions to remove polyps. […] Prophylactic surgery: In some cases, preventive surgery, such as a colectomy, is recommended for individuals with a high risk of developing colorectal cancer. This strategy has proven effective in reducing the lifetime risk of cancer from nearly 100% to less than 5% when performed at the right time.

• #1 Familial Adenomatous Polyposis: Symptoms, Causes, Treatment

  https://www.healthline.com/health/colorectal-cancer/familial-adenomatous-polyposis

  FAP isnt preventable since its an inherited condition. However, regular screening can improve the outcomes and lower your risk of developing advanced cancer. […] The American Academy of Family Physicians recommends the following screening protocols for people with FAP: sigmoidoscopy starting at around 10 years of age, yearly sigmoidoscopy or colonoscopy once an APC mutation has been found, yearly colonoscopy once polyps are found until a colectomy procedure is scheduled, continued yearly screening until 24 years of age screening every 2 years until age 30 screening every 3 years until age 44 screening every 3 to 5 years after age 44. […] Regular screening for cancer is critical for improving outcomes. A doctor can advise you about how often you should get screened and whether youre eligible for clinical trials that may give you access to new treatments.

• #1 FAP Syndrome | Colorectal Cancer Alliance

  https://colorectalcancer.org/screening-prevention/prevention/genetic-and-inherited-conditions/fap-syndrome

  Screening usually begins at eight to ten years old. […] If your doctor tells you that you are at risk for adenomatous polyposis syndromes, regular screening for colorectal cancer is critical. […] Talk to your doctor about how frequently you need to be screened. […] Knowing your family history is an important part of prevention. […] Having any inherited risk factors on your radar early will allow you to be your own advocate and be proactive about your health and screenings.

• #1 Updated perspectives on the diagnosis and management of FAP | TACG

  https://www.dovepress.com/updated-perspectives-on-the-diagnosis-and-management-of-familial-adeno-peer-reviewed-fulltext-article-TACG

  Familial adenomatous polyposis (FAP) is an autosomal dominant cancer predisposition syndrome marked by extensive colorectal polyposis and a high risk of colorectal cancer (CRC). Having access to screening and enrollment programs can improve survival for patients with FAP by enabling them to undergo surgery before the development of colorectal cancer. […] The gold-standard treatment to reduce this risk is prophylactic colectomy, typically by the age of 40. However, colectomy is linked to morbidity and constitutes an ineffective way at preventing extra-colonic disease manifestations, such as desmoid disease, thyroid malignancy, duodenal polyposis, and cancer. […] Moreover, extensive studies have been conducted into the use of chemopreventive agents to prevent disease progression and delay the necessity for a colectomy as well as the onset of extracolonic disease.

• #1 Chemoprevention in familial adenomatous polyposis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3569729/

  Familial adenomatous polyposis (FAP) predictably leads to adenomas and eventual adenocarcinomas in the lower gastrointestinal tract and less frequently, the upper gastrointestinal tract. Chemopreventive strategies have been studied in FAP patients to delay the development of adenomas in the upper and lower gastrointestinal tract, as well as to prevent recurrence of adenomas in the retained rectum of patients after prophylactic surgery with colectomy and ileorectal anastamosis (IRA). […] The two main prophylactic surgeries are colectomy with ileorectal anastamosis (IRA) and proctocolectomy with ileal pouch-anal anastamosis (IPAA). […] Given the predictable development of colorectal cancer in patients with FAP, the safest preventative strategy is surgical resection of the colon when polyposis develops.

• #1 Chemoprevention in familial adenomatous polyposis: past, present and future

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7276278/

  Familial adenomatous polyposis (FAP) is a hereditary colorectal cancer syndrome characterized by colorectal adenomas and a near 100% lifetime risk of colorectal cancer (CRC). Prophylactic colectomy, usually by age 40, is the gold-standard therapy to mitigate this risk. […] Substantial research has investigated chemoprevention medications in an aim to prevent disease progression, postponing the need for colectomy and temporizing the development of extracolonic disease. […] An ideal chemoprevention agent should have a biologically plausible mechanism of action, be safe and easily tolerated over a prolonged treatment period, and produce a durable and clinically meaningful effect. […] To date, no chemoprevention agent tested has fulfilled these criteria. New agents targeting novel pathways in FAP are needed.

• #1 Familial Adenomatous Polyposis Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/175377-treatment

  A randomized trial suggested potential for aspirin to reduce colorectal adenoma growth or development in patients with FAP. However, it was a small study and patients have to be closely monitored for adverse events. […] Surgical therapy should be performed before the onset of cancer. […] Educate patients about the need for cancer surveillance after colectomy.

• #1 Managing familial adenomatous polyposis (FAP): new approaches | MD Anderson Cancer Center

  https://www.mdanderson.org/cancerwise/new-approaches-to-managing-familial-adenomatous-polyposis–fap.h00-159537378.html

  Familial adenomatous polyposis increases colorectal cancer risk. […] Although the genetic mutation is rare and only makes up for 1% of colorectal cancer cases, patients with FAP have a 100% likelihood of developing colorectal cancer by age 30, Vilar-Sanchez says. […] If FAP is confirmed, the patient will need a colonoscopy every year or sometimes more frequently. […] To stop a polyp from becoming cancer, it must be removed. […] By age 30, if not sooner, the colon should be removed through a surgery known as a colectomy. […] With the colon removed, the risk of colorectal cancer becomes almost none. This effectively prevents FAP patients from dying of colorectal cancer, Vilar-Sanchez says. […] The anti-inflammatory drug sulindac can serve as a chemoprevention therapy as an alternative approach to managing polyps in the duodenum.

• #1 Familial adenomatous polyposis | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-22

  In patients with FAP, treatment with 400 mg of celecoxib twice daily for 6 mo had been shown to reduce the tumor burden by 28% as compared to a reduction of 4.5% in the placebo group. […] The management of patients with AFAP depends largely on the polyp burden and their location in the large bowel. […] Since the adenoma-carcinoma sequence in these patients does not seem to be overly accelerated, a 2 year interval between colonoscopies, probably for life, could be sufficient. […] If multiple polyps or clusters are found during colonoscopy, or repeated total colonoscopy is technically difficult, surgical resection is the treatment of choice for these patients.

• #1 Chemoprevention in familial adenomatous polyposis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3569729/

  Chemoprevention is the use of pharmaceutical or natural agents to prevent or delay the development of cancer in healthy patients. […] There are three main roles that chemoprevention can play in patients with FAP: (1) to delay prophylactic colectomy; (2) to prevent cancer development in the retained rectum in patients after colectomy with IRA; and (3) to prevent cancer development in the upper gastrointestinal tract, especially the duodenum. […] The efficacy of NSAIDs has been demonstrated in clinical trials and animal studies. […] The efficacy of NSAIDs as chemopreventive agents in patients with FAP was first suggested in a non-randomized study of four members of a family with FAP complicated by desmoid tumours. […] Given its efficacy in regression of adenomas, sulindac’s potential as a primary chemopreventive agent in patients with FAP was studied.

• #1 Chemoprevention in familial adenomatous polyposis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3569729/

  The ultimate goal of chemoprevention in FAP is to prevent the inevitable development of colorectal cancer among these patients. […] Sulindac can be given to delay the progression of polyposis in the retained rectum among patients after colectomy with IRA but should be used in conjunction with a strict endoscopic surveillance regimen. […] The NSAID sulindac and the COX-2 inhibitor celecoxib have been studied most extensively and show efficacy in reducing polyp burden in patients after colectomy with IRA. […] Chemoprevention with sulindac 150 mg twice daily or celecoxib 400 mg twice daily can be considered in FAP patients following initial prophylactic surgery and retained rectal segments as an adjunct to endoscopic surveillance. […] Combination therapy with NSAIDs along with dietary supplements such as curcumin and PUFAs shows promise as chemopreventive agents but needs further randomized, controlled trials to verify efficacy and safety.

• #1 Familial adenomatous polyposis | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-22

  Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. […] Cancer prevention and maintaining a good quality of life are the main goals of management and regular and systematic follow-up and supportive care should be offered to all patients. […] By the late teens or early twenties, colorectal cancer prophylactic surgery is advocated. […] The recommended alternatives are total proctocolectomy and ileoanal pouch or ileorectal anastomosis for AFAP. […] Individuals with FAP carry a 100% risk of CRC; however, this risk is reduced significantly when patients enter a screening-treatment program. […] Randomized trials have shown that both sulindac and celecoxib cause regression of established adenomatous polyps in individuals with FAP.

• #1 Managing familial adenomatous polyposis (FAP): new approaches | MD Anderson Cancer Center

  https://www.mdanderson.org/cancerwise/new-approaches-to-managing-familial-adenomatous-polyposis–fap.h00-159537378.html

  One clinical trial is studying obeticholic acid (Ocaliva), an FDA-approved oral drug that acts as a synthetic bile acid to stops pathways of intestinal stem cells. […] Along with his team, hes investigating if obeticholic acid can serve as a chemoprevention therapy to slow or halt the development of polyps in the duodenum of patients with FAP who have received a colectomy.

• #1 Complete Regression of the Adenomatous Polyps in a Patient affected by Familial Adenomatous Polyposis after Prolonged Administration of Phytoestrogens and Sulindac

  https://www.gavinpublishers.com/article/view/complete-regression-of-the-adenomatous-polyps-in-a-patient-affected-by-familial-adenomatous-polyposis-after-prolonged-administration-of-phytoestrogens-and-sulindac

  The chemoprevention of adenomatous polyps that recur after colectomy performed for the familial adenomatous polyposis has been tried several times in the past, but any of the proposed treatments has shown a complete and lasting disappearance of the polyps. […] Prophylactic colectomy is the treatment of choice and is generally undertaken before 20 years of age. […] In the last decades, various attempts to control or prevent the growth of these polyps have been tried, but any of the proposed treatments has been accompanied by a complete and lasting disappearance of the polyps. […] The association of the phytoestrogens to a low dose of Sulindac can obtain a prompt regression of resistant polyps with good tolerability for this chemopreventive choice. […] Various medical treatments for avoiding the development of recurrent adenomas in patients with FAP have been proposed.

• #1 Complete Regression of the Adenomatous Polyps in a Patient affected by Familial Adenomatous Polyposis after Prolonged Administration of Phytoestrogens and Sulindac

  https://www.gavinpublishers.com/article/view/complete-regression-of-the-adenomatous-polyps-in-a-patient-affected-by-familial-adenomatous-polyposis-after-prolonged-administration-of-phytoestrogens-and-sulindac

  Another approach in preventing the proliferation of adenomatous polyps in FAP patients is to employ the phytoestrogens. […] Dietary supplementation with phytoestrogens can prevent the formation of new polyps with good tolerability and in absence of side effects. […] The association of the phytoestrogens to Sulindac can obtain a prompt regression in case of resistant polyps or of great adenoma burden.

• #1

  https://journals.lww.com/ajg/fulltext/2021/10001/s306_non_steroidal_anti_inflammatory_drugs.306.aspx

  Published literature shows mixed reports of the benefits of non-steroidal anti-inflammatory drugs (NSAIDs) in colon cancer prevention in patients with familial adenomatous polyposis (FAP). […] Treatment with NSAIDs reduced both polyp number (MD -24.68% (95% CI -39.45%, -9.1%) I2 =95%) (Low certainty) and polyp size (MD -21.69% (95% CI -44.76%, 1.34%); I2=98%) (Low certainty) when compared to placebo. […] Low certainty evidence showed that short-term NSAID use reduced polyp number by 25% and polyp size by 22%. Further studies are needed before NSAIDs can be universally recommended for colon cancer chemoprevention in FAP.

• #1 Familial Adenomatous Polyposis Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/175377-treatment

  Medical care is mainly based on endoscopic surveillance to detect the onset of polyposis. Consequently, surgery would prevent the development of colon cancer. However, in view of the increased risk for the development of other cancers, continued medical follow-up is required with a number of surveillance tests, as colectomy would only address the potential risk of colon cancer. […] Failure to obtain a relevant family history of FAP and providing information to family members on their risk and need for follow-up screenings to prevent cancers can be considered medical negligence. At the same time, identifying an asymptomatic person at risk and needing a diagnosis and follow-up treatment could lead to denial of medical and life insurances. […] Screening of family members of patients with FAP should begin by age 12 years. Flexible sigmoidoscopy every 1-2 years until the patient is aged 35 years is adequate, then every 3 years thereafter. Genetic testing may eliminate the need for surveillance in some family members.

• #1 Familial Adenomatous Polyposis – Genetic Syndromes Associated With Colorectal Cancer – Colorectal Polyps and Genetic Syndromes Associated With Colorectal Cancer – Intestinal Diseases – Gastrointestinal Diseases – Gastroenterology – Diseases – McMaster T

  https://empendium.com/mcmtextbook/chapter/B31.II.4.72.6.5.2.

  In patients with AFAP colonoscopy should be performed every 1 to 2 years, starting at 18 to 20 years of age. […] After the operation in patients who underwent J-pouch reconstruction, endoscopic supervision every 1 to 2 years with pouchoscopy is indicated (given the risk of cancer development at the rectal cuff). […] Patients with FAP have an increased risk of adenomatous polyps in the gastric fundus and duodenum with the potential of development of periampullary duodenal cancer and should therefore undergo endoscopy of the upper gastrointestinal tract (with a side-viewing endoscope) every 6 months to 5 years, starting at the age of 25 to 30 years or since the diagnosis of polyposis in the large intestine.

• #1 Upper gastrointestinal neoplasia in familial adenomatous polyposis: prevalence, endoscopic features and management – Campos – Journal of Gastrointestinal Oncology

  https://jgo.amegroups.org/article/view/27805/html

  Since the 1960s, upper digestive screening and surveillance of polyps in FAP has been increasingly advocated. […] For this reason, duodenal surveillance should begin no later than 25-30 years, which is when the risk of cancer is lower. […] Therefore, advanced stage patients (size 10 mm, villous pattern, and high-grade dysplasia) should undergo endoscopic or transduodenal resection and continued surveillance every 6-12 months (maximum interval of 2 years). […] Although data on ampullary adenomas are scarce, there is a suggestion that ampullary and duodenal diseases should be considered separately. […] There is no consensus on the most appropriate surveillance interval following endoscopic resection of ampullary adenomas. […] Nevertheless, there is a consensus that endoscopic surveillance should be performed after 25 years of age with the use of a side or forward viewer endoscope at intervals defined by staging (annual for stages III and IV, every 3 years for stage II and every 5 years for stage I).

• #1 Familial Adenomatous Polyposis (FAP): Symptoms, Diagnosis, Risks

  https://my.clevelandclinic.org/health/diseases/16993-familial-adenomatous-polyposis-fap

  Genetic counseling can help you understand the risks of passing on FAP to your genetic descendants. Discussing these risks can help you plan. In general, you cant prevent the gene mutation from happening at conception, but there are some different family planning options you can consider. […] Without timely treatment, the median life expectancy is 42 years. But with appropriate care, you can live a normal life. Once your colon has been removed, your biggest risk is from other gastrointestinal cancers or problematic desmoid tumors. These occur much less frequently than colorectal cancer.

• #1 What is familial adenomatous polyposis? – Mayo Clinic Comprehensive Cancer Center Blog

  https://cancerblog.mayoclinic.org/2023/11/30/what-is-familial-adenomatous-polyposis/

  Preventing familial adenomatous polyposis is not possible, since it is predominantly an inherited genetic condition. However, if you or your child are at risk because of a family member with the condition, you will need genetic testing and counseling. […] A blood test can determine if you carry the abnormal gene that causes familial adenomatous polyposis. Ruling it out spares at-risk children years of screening and emotional distress. For children who carry the gene, appropriate screening and treatment greatly reduces the risk of cancer. […] For people at risk, it’s important to be screened frequently, starting in childhood. Annual exams can detect the growth of polyps before they become cancerous. […] If you have been diagnosed with familial adenomatous polyposis, you will need regular screening, followed by surgery if needed. Surgery can help prevent the development of colorectal cancer or other complications.

• #1 Content – Health Encyclopedia – University of Rochester Medical Center

  https://www.urmc.rochester.edu/encyclopedia/Content?contentTypeID=85&ContentID=p07199

  Because FAP starts at an early age, cancer screening often starts in childhood. Genetic testing of children at risk is also advised. A child whose parent has FAP has a 50% chance of inheriting it. […] If the child doesn’t have the defective gene, they may not need tests, such as sigmoidoscopy or colonoscopy.

• #1

  https://link.springer.com/article/10.1007/s10689-020-00189-y

  A single case report of rapamycin, an mTOR inhibitor, used as chemoprevention in FAP patients exists, but no formal clinical studies have been conducted. […] Here, we review the prior literature on chemoprevention in FAP, discuss the rationale for rapamycin in FAP, and outline a proposed clinical trial testing rapamycin as a chemoprevention agent in patients with FAP.

• #1 Developing an experimental platform to test new polyp-prevention therapies in familial adenomatous polyposis | Bowel Cancer UK

  https://www.bowelcanceruk.org.uk/research/our-research/current-research-projects/developing-an-experimental-platform-to-test-new-polyp-prevention-therapies-in-familial-adenomatous-polyposis/

  Dr Ochocka-Fox is using tissue from people with familial adenomatous polyposis (FAP) to build a new resource to support research into better treatments for this condition. […] So, there is a need to develop new therapies that can slow these polyps from forming or progressing in to cancer. […] Providing a bank of organoids as a test platform will support the development of new therapies for FAP patients. This could reduce the need for preventative whole bowel removal, without increasing cancer risk, which would greatly improve quality of life for people with FAP.

• #1

  https://www.jci.org/articles/view/17323

  Here we describe the effect of immunization with dendritic cells loaded with syngeneic tumor cells (DC/Ts) by polyethylene glycol treatment, on tumor development in adenomatous polyposis coli (APC) gene mutant mouse models, APC1309 and APCMin/+, in which adenomatous polyps of the gastrointestinal tracts develop with a high incidence. Treatment with DC/Ts prevented the development of gastrointestinal tumors, and coadministration of DC/Ts and IL-12 caused a further reduction in tumor incidence. […] Our study demonstrates that DC/T vaccination inhibits the spontaneous development of tumor in genetic tumor models, indicating that this vaccination strategy may be also effective for preventing tumor development in FAP patients with APC gene mutations. […] Immunization with DC/Ts could then be used to prevent tumor recurrence.

• #1 Familial Adenomatous Polyposis (FAP) | Know Your Biomarker

  https://www.knowyourbiomarker.org/biomarkers/familial-adenomatous-polyposis

  Classic and attenuated FAP are characterized by hundreds to thousands of colorectal adenomatous polyps (adenomas) which are abnormal growths in the colon and rectum that are precancerous. […] If you have familial adenomatous polyposis, talk to your oncology team about screening and prevention of other FAP associated cancers. […] Family members who are tested and subsequently diagnosed with FAP have earlier (starting at age 10) and more frequent (yearly) colorectal cancer screening, removal of precancerous polyps through colonoscopy, and may have a preventive (prophylactic) colectomy. […] An early FAP diagnosis can prevent colorectal cancer in family members.

• #1 June 12-18, 2022: Familial Adenomatous Polyposis Week

  https://www.michigan.gov/whitmer/news/proclamations/2022/06/12/june-12-18-2022-familial-adenomatous-polyposis-week

  Familial Adenomatous Polyposis is a hereditary condition characterized by high numbers of polyps developing within the colon and rectum, significantly increasing an individuals risk of colorectal cancer; and, […] understanding your risk for Familial Adenomatous Polyposis/ Attenuated Familial Adenomatous Polyposis can help healthcare providers determine an appropriate treatment and screening protocol for the prevention or early detection of colorectal and other cancers; and, […] Michigan residents are encouraged to gather their family health history, and to share this information with a health care provider for early screening and prevention of cancers associated with Familial Adenomatous Polyposis/ Attenuated Familial Adenomatous Polyposis;

• #1 Updated perspectives on the diagnosis and management of FAP | TACG

  https://www.dovepress.com/updated-perspectives-on-the-diagnosis-and-management-of-familial-adeno-peer-reviewed-fulltext-article-TACG

  The ideal chemoprevention agent should demonstrate a biologically plausible mechanism of action and provide safety, easy tolerance over an extended period of time and a lasting and clinically meaningful effect. […] Although many pharmaceutical and non-pharmaceutical products have been tested through the years, there has not yet been a chemoprevention agent that meets these criteria. […] Thus, it is necessary to develop new FAP agents that target novel pathways, such as the mTOR pathway. […] Prophylactic colectomy and endoscopic surveillance currently constitute the best choice for cancer prevention in FAP. However, drugs that can prevent CRC has received a lot of attention from researchers in recent years. Chemopreventive medicines work to reduce or delay the risk of cancer by targeting the pathways that lead to cancer development.

• #1 Familial Colorectal Cancers – Familial Adenomatous Polyposis (FAP) | OncoLink

  https://www.oncolink.org/cancers/gastrointestinal/colon-cancer/risk-prevention-and-screening/familial-colorectal-cancers-familial-adenomatous-polyposis-fap

  FAP can also lead to other non-cancerous issues: […] If you have any of these health issues you should talk to your provider about being tested for FAP. […] People with FAP need to have their colons removed to prevent getting colon cancer. This surgery is often done when you are in your late teens and dont have any symptoms of FAP. […] Research about FAP has led to the availability of genetic testing for those at-risk, improved screening and surgical options, and clinical trials for the prevention of polyps. Continued research into FAP will lead to better treatments and outcomes.

• #2 Managing familial adenomatous polyposis (FAP): new approaches | MD Anderson Cancer Center

  https://www.mdanderson.org/cancerwise/new-approaches-to-managing-familial-adenomatous-polyposis–fap.h00-159537378.html

  Familial adenomatous polyposis increases colorectal cancer risk. […] Although the genetic mutation is rare and only makes up for 1% of colorectal cancer cases, patients with FAP have a 100% likelihood of developing colorectal cancer by age 30, Vilar-Sanchez says. […] If FAP is confirmed, the patient will need a colonoscopy every year or sometimes more frequently. […] To stop a polyp from becoming cancer, it must be removed. […] By age 30, if not sooner, the colon should be removed through a surgery known as a colectomy. […] With the colon removed, the risk of colorectal cancer becomes almost none. This effectively prevents FAP patients from dying of colorectal cancer, Vilar-Sanchez says. […] The anti-inflammatory drug sulindac can serve as a chemoprevention therapy as an alternative approach to managing polyps in the duodenum.

• #2 Familial Adenomatous Polyposis: Symptoms, Causes, Treatment

  https://www.healthline.com/health/colorectal-cancer/familial-adenomatous-polyposis

  FAP isnt preventable since its an inherited condition. However, regular screening can improve the outcomes and lower your risk of developing advanced cancer. […] The American Academy of Family Physicians recommends the following screening protocols for people with FAP: sigmoidoscopy starting at around 10 years of age, yearly sigmoidoscopy or colonoscopy once an APC mutation has been found, yearly colonoscopy once polyps are found until a colectomy procedure is scheduled, continued yearly screening until 24 years of age screening every 2 years until age 30 screening every 3 years until age 44 screening every 3 to 5 years after age 44. […] Regular screening for cancer is critical for improving outcomes. A doctor can advise you about how often you should get screened and whether youre eligible for clinical trials that may give you access to new treatments.

• #2

  https://link.springer.com/article/10.1007/s10689-020-00189-y

  Familial adenomatous polyposis (FAP) is a hereditary colorectal cancer syndrome characterized by colorectal adenomas and a near 100% lifetime risk of colorectal cancer (CRC). Prophylactic colectomy, usually by age 40, is the gold-standard therapy to mitigate this risk. […] Substantial research has investigated chemoprevention medications in an aim to prevent disease progression, postponing the need for colectomy and temporizing the development of extracolonic disease. […] An ideal chemoprevention agent should have a biologically plausible mechanism of action, be safe and easily tolerated over a prolonged treatment period, and produce a durable and clinically meaningful effect. […] To date, no chemoprevention agent tested has fulfilled these criteria. New agents targeting novel pathways in FAP are needed.

• #2 Testing Obeticholic Acid for Familial Adenomatous Polyposis | Division of Cancer Prevention

  https://prevention.cancer.gov/clinical-trials/clinical-trials-search/nct05223036

  This phase IIa trial investigates if giving obeticholic acid (OCA) is safe and has a beneficial effect on the number of polyps in the small bowel and colon in patients with familial adenomatous polyposis (FAP). […] OCA binds to a receptor in the intestine that is believed to have a positive effect on preventing cancer development. […] However, it is not yet known whether OCA works on reducing the number of polyps in patients with FAP.

• #2 Updated perspectives on the diagnosis and management of FAP | TACG

  https://www.dovepress.com/updated-perspectives-on-the-diagnosis-and-management-of-familial-adeno-peer-reviewed-fulltext-article-TACG

  Familial adenomatous polyposis (FAP) is an autosomal dominant cancer predisposition syndrome marked by extensive colorectal polyposis and a high risk of colorectal cancer (CRC). Having access to screening and enrollment programs can improve survival for patients with FAP by enabling them to undergo surgery before the development of colorectal cancer. […] The gold-standard treatment to reduce this risk is prophylactic colectomy, typically by the age of 40. However, colectomy is linked to morbidity and constitutes an ineffective way at preventing extra-colonic disease manifestations, such as desmoid disease, thyroid malignancy, duodenal polyposis, and cancer. […] Moreover, extensive studies have been conducted into the use of chemopreventive agents to prevent disease progression and delay the necessity for a colectomy as well as the onset of extracolonic disease.

• #3 Chemoprevention in familial adenomatous polyposis: past, present and future

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7276278/

  Familial adenomatous polyposis (FAP) is a hereditary colorectal cancer syndrome characterized by colorectal adenomas and a near 100% lifetime risk of colorectal cancer (CRC). Prophylactic colectomy, usually by age 40, is the gold-standard therapy to mitigate this risk. […] Substantial research has investigated chemoprevention medications in an aim to prevent disease progression, postponing the need for colectomy and temporizing the development of extracolonic disease. […] An ideal chemoprevention agent should have a biologically plausible mechanism of action, be safe and easily tolerated over a prolonged treatment period, and produce a durable and clinically meaningful effect. […] To date, no chemoprevention agent tested has fulfilled these criteria. New agents targeting novel pathways in FAP are needed.

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