Familial intestinal polyposis usually means a condition called familial adenomatous polyposis (FAP). It is an inherited disease where hundreds to thousands of small growths (polyps) form in the large intestine (colon and rectum). If these polyps are not treated, they almost always turn into bowel (colorectal) cancer in adult life. This disease happens because of a change (mutation) in a “tumor-suppressor” gene, most often the APC gene. A tumor-suppressor gene normally stops cells from growing too fast. When this gene is damaged, cells in the bowel lining grow too much and form many polyps.
Familial intestinal polyposis is a rare inherited condition in which hundreds to thousands of small growths (polyps) develop in the lining of the intestine, especially the colon and rectum. Over time, many of these polyps can slowly change into cancer if they are not found and removed. Most people with familial intestinal polyposis carry a change (mutation) in a gene such as the APC gene. This gene normally works like a “brake” on cell growth; when it is damaged, the cells in the bowel lining grow too fast and form many polyps. Without careful follow-up and treatment, the lifetime risk of colorectal cancer is very high, often close to 100% in classic forms of the disease.[1]
Doctors manage this condition with a mix of regular endoscopy (looking inside the bowel with a camera), removal of polyps, sometimes major bowel surgery, and sometimes medicines to reduce the number or size of polyps. People with familial intestinal polyposis also have higher risks of other problems such as duodenal polyps, stomach polyps, desmoid tumors, and some other cancers, so they usually stay under lifelong specialist care in a hereditary cancer clinic.[2]
Familial intestinal polyposis is rare, but it is very serious. Without careful check-ups and often major surgery to remove part or all of the colon, most people with this condition will develop colorectal cancer, usually before the age of 40–50 years.
Other names
Doctors use several other names for familial intestinal polyposis. These names often talk about polyps (adenomas) and the APC gene:
- Familial adenomatous polyposis (FAP)
- Familial adenomatous polyposis coli
- Familial polyposis coli
- APC-associated polyposis condition
- Polyposis coli (older term)
All of these names describe the same basic idea: many adenomatous polyps in the intestine caused by an inherited gene change.
Types
Even though the basic problem is the same gene family, doctors divide familial intestinal polyposis into different types. The type depends on how many polyps appear, how early they start, and where in the gut and body problems show up.
- Classic familial adenomatous polyposis (classic FAP)
This is the “standard” form. People develop hundreds to thousands of adenomatous polyps in the colon and rectum, usually starting in the teenage years. Without treatment, colorectal cancer is almost certain in early or middle adult life. - Attenuated familial adenomatous polyposis (AFAP)
In this milder form, people usually have fewer than 100 polyps, and the polyps often appear later in life. The cancer risk is still very high, but cancer may start later than in classic FAP. Polyps may also be more spread out, including the right side of the colon. - Gardner syndrome (FAP with extra growths)
This is a form of FAP where, in addition to bowel polyps, people develop growths in other parts of the body, such as bony lumps (osteomas), skin cysts, and desmoid tumors (fibrous tumors inside the abdomen or in the body wall). - Turcot syndrome / FAP with brain tumors
Some people with APC gene changes have both intestinal polyps and certain brain tumors, especially medulloblastoma. This combination is sometimes called Turcot syndrome. It is rare but important, especially in young people. - Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS)
This is a related condition linked to APC changes. Many polyps develop in the upper part of the stomach and there is a risk of stomach cancer. It is grouped under “APC-associated polyposis conditions.” - MUTYH-associated polyposis (MAP)
This is not due to APC, but to changes in another gene, MUTYH. It causes multiple adenomatous polyps and a high colorectal cancer risk, and may look similar to attenuated FAP. Some older papers may still group it within “familial intestinal polyposis” syndromes.
Causes
Here “cause” means the reasons the disease exists and the factors that make polyps and cancer more likely. The main cause is genetic, and other things mainly act as helpers or accelerators, not as the basic root cause.
APC gene mutation (main cause)
The biggest cause is a harmful mutation in the APC gene on chromosome 5. This mutation stops the gene from doing its normal job of keeping cell growth under control, so many adenomas form in the bowel.Autosomal dominant inheritance
The APC mutation is usually passed from parent to child in an autosomal dominant pattern. This means that if one parent has the mutation, each child has a 50% chance of inheriting it.New (de novo) APC mutation
In some people, the APC mutation appears for the first time in them, with no family history. This new mutation still behaves the same way and can be passed to the next generation.Two-hit tumor-suppressor mechanism
APC is a tumor-suppressor gene. Usually one copy is already mutated in all cells (from birth). When the second copy is lost or damaged in some bowel cells, those cells grow into polyps. This “two-hit” pattern explains the many polyps.Specific mutation site in APC gene
Different spots (codons) in the APC gene are linked with different severities. Some locations are linked to classic FAP with very many polyps, while other locations are linked to attenuated FAP.MUTYH gene mutations (MAP)
When both copies of the MUTYH gene are changed, people develop MUTYH-associated polyposis. This is inherited in an autosomal recessive way and can mimic attenuated FAP with many adenomas.Other polyposis-related genes
Rarely, mutations in other DNA repair or proofreading genes, such as POLE, POLD1, or NTHL1, can cause multiple adenomatous polyps that clinically look similar to FAP and may be grouped together in broad “familial intestinal polyposis” discussions.Genetic mosaicism
In some people, only a portion of their cells carry the APC mutation. This is called mosaicism. It can cause milder or unusual patterns of polyposis and may make diagnosis harder.Family history and small families
A strong family history of early colon cancer or many polyps suggests FAP. In very small families, the pattern may be hard to see, so the disease may appear “out of nowhere,” which delays diagnosis and allows more polyps to grow.Extraintestinal APC effects
The APC mutation affects cells outside the colon too. This is why people can develop polyps in the stomach and duodenum, desmoid tumors, bone growths, and some other cancers. These are not separate causes but show how far-reaching the gene effect is.Chronic inflammation in the gut
In people with APC mutations, ongoing gut inflammation (for example from infections, long-term irritation, or other conditions) may further damage DNA and help polyps grow and change into cancer faster, even though it does not create the original mutation.High-fat, low-fiber diet
A Western-style diet that is rich in processed meat and animal fat and low in fiber is linked with higher colorectal cancer risk in general. In people with FAP, such a diet may further increase the chance that adenomas turn into cancer.Smoking
Smoking is a known risk factor for colorectal cancer. In someone who already has an APC mutation and many polyps, smoking may add more DNA damage and speed up the path from polyp to cancer.Heavy alcohol use
Long-term heavy drinking increases colorectal cancer risk. In FAP, alcohol does not cause the gene change but may make malignant change in polyps more likely.Obesity and lack of exercise
Excess body weight and low physical activity are linked with colorectal cancer. In carriers of APC mutations, obesity and inactivity may contribute to earlier or more aggressive cancer development.Delayed or absent colon screening
If people at risk do not get regular colonoscopy, polyps can grow for many years without being seen or removed. This does not cause the genetic disease, but it causes the clinical problem of large polyp burden and advanced cancer.Lack of genetic counseling and testing
When a family with FAP does not receive counseling and gene testing, at-risk relatives may not know they have the mutation. They then miss early check-ups and lifesaving surgery, which leads to more disease and deaths.Hormonal and growth factors
Signals such as growth factors and certain hormones interact with the APC pathway (for example, Wnt/β-catenin signaling) and can push cells toward faster growth once APC is lost. These molecular signals help “cause” the huge number of adenomas.Second cancers and treatment effects
People with FAP can develop other cancers (such as duodenal or thyroid cancer) and may need chemotherapy or radiation. These treatments can damage normal tissues and sometimes cause further genetic changes, complicating the disease course.Natural aging of bowel cells
As bowel cells naturally divide over many years, small DNA mistakes build up. In people without APC mutations, many checks repair this. In FAP, the basic control is already broken, so normal aging of cells becomes another step that helps polyps and cancer develop.
Symptoms
Symptoms can vary with age and with how many polyps are present. Some people feel well for years and are diagnosed only by family screening. Others have clear bowel symptoms or extraintestinal problems.
Blood in the stool
One of the most common signs is bright red or dark blood mixed with or on the surface of the stool. This bleeding comes from fragile polyps that are easily injured as stool passes by.Mucus in the stool
Polyps are made of gland cells that secrete mucus. Many polyps can lead to large amounts of mucus in the stool, making it slimy or jelly-like.Diarrhea or frequent loose stools
Multiple polyps can irritate the bowel lining and disturb water absorption. This may cause frequent loose stools or diarrhea, especially when the colon is heavily carpeted with adenomas.Change in bowel habits
Some people notice that their usual pattern of going to the toilet changes. For example, they may go more often, have smaller stools, or feel they cannot fully empty the rectum. This can be a sign that polyps or cancers are narrowing the bowel.Abdominal pain or cramping
Polyps themselves may not hurt, but large numbers of them, or a cancer, can cause crampy abdominal pain, bloating, or a feeling of fullness. Pain can also come from partial blockage of the bowel.Unexplained weight loss
Because polyps and cancers use energy and can cause poor appetite or malabsorption, some people lose weight without trying. This is more common in advanced disease.Tiredness and weakness (fatigue)
Slow, long-term blood loss from many polyps can cause iron-deficiency anemia. Anemia reduces oxygen in the body and leads to tiredness, pale skin, and shortness of breath on exertion.Pale skin and dizziness
When anemia becomes more severe, the skin and inner eyelids may look pale, and people may feel dizzy or faint. This may be one of the first clues in a young person with hidden bowel bleeding.Feeling of something in the rectum
People may feel a constant urge to pass stool or have the uncomfortable sense that something is “stuck” in the rectum. This can happen if polyps or a tumor are near the anal opening.Visible polyp at the anal opening
Occasionally, a large polyp may prolapse, meaning it slips down and becomes visible or can be felt at the anus. This is a clear sign of serious bowel disease and needs urgent medical check-up.Stomach or upper gut symptoms
Polyps can also grow in the stomach and duodenum. They may cause upper abdominal pain, nausea, vomiting, or, rarely, bleeding, especially when duodenal polyps become advanced.Bone growths and skin lumps (Gardner-type features)
Some people develop bony lumps on the skull or jaw (osteomas), soft tissue tumors, or cysts under the skin. These are painless in many cases but are important “extra clues” that point to FAP.Thyroid lump
People with FAP have a higher risk of thyroid cancer, especially papillary thyroid carcinoma. A painless neck lump, hoarse voice, or trouble swallowing can be warning signs.Desmoid tumor symptoms
Desmoid tumors are fibrous growths that can occur in the abdomen or body wall. They can cause a firm lump, abdominal pain, or bowel obstruction. In FAP, they can be serious and sometimes life-threatening.No symptoms (silent disease)
Many young people with FAP feel completely well. They may have many polyps but no obvious problems. This is why family screening and genetic testing are so important in at-risk relatives.
Diagnostic tests
Doctors use a mix of physical examination, history, lab tests, scopes, and imaging to diagnose familial intestinal polyposis and to plan treatment. Colonoscopy and genetic testing are the key tests, but many others are used to check complications and prepare for surgery.
Physical exam tests
General physical examination and medical history
The doctor asks about symptoms (bleeding, bowel changes, weight loss), age of onset, and family history of colon cancer or polyps. They also check weight, pale skin, and general health. This first step guides further testing.Abdominal inspection and palpation
The doctor looks at and feels the abdomen for tenderness, swelling, or large masses. In advanced disease, they may feel a tumor or a large desmoid mass. This exam helps find serious complications such as obstruction.Digital rectal examination (DRE)
With a gloved, lubricated finger, the doctor gently feels inside the rectum for polyps, tumors, or blood. In some cases, distal polyps or cancers can be felt this way, and stool on the glove may show blood.Perianal and skin examination
The doctor looks at the area around the anus for prolapsing polyps, fistulas, or skin tags, and checks the rest of the skin and bones for signs such as osteomas or skin cysts that suggest Gardner-type FAP.
Manual / bedside tests
Family pedigree mapping
The clinician draws a family tree, marking relatives with colon cancer, polyps, or other cancers. This “manual” mapping helps recognize an autosomal dominant pattern and decide who needs genetic testing.Stool inspection for visible blood and mucus
Even before lab tests, the doctor may ask the patient to look at or bring a sample of stool. Visible red blood, dark tarry stool, or thick mucus can be simple bedside clues to bleeding polyps.Bedside fecal occult blood testing
Small cards and reagents can be used in the clinic to check stool for hidden (occult) blood. This is a quick screening tool; if positive, it supports the need for colonoscopy, especially in a young at-risk person.
Lab and pathological tests
Complete blood count (CBC)
A CBC checks the number of red blood cells, white cells, and platelets. In FAP, long-term bleeding from polyps often leads to low red blood cells and low hemoglobin (iron-deficiency anemia).Iron studies (ferritin, iron, transferrin saturation)
These tests confirm iron-deficiency anemia by measuring iron stores in the body. Low ferritin and iron with high transferrin often mean chronic blood loss from the gut.APC gene genetic testing
Blood is taken and DNA is tested for mutations in the APC gene. Finding a disease-causing APC variant confirms the diagnosis of APC-associated polyposis and allows testing of other family members.MUTYH gene testing
If many adenomas are present but APC testing is negative, the lab may test for MUTYH mutations. Two MUTYH mutations suggest MUTYH-associated polyposis, which is managed in a similar way.Tumor and polyp biopsy with histopathology
During colonoscopy, the doctor removes sample pieces (biopsies) or whole polyps. A pathologist examines them under the microscope to confirm that they are adenomas and to look for dysplasia or cancer.Surgical specimen examination
When part or all of the colon is removed, the entire specimen is studied. The pathologist counts the number of polyps, checks for cancers, and reports margins and lymph node involvement, which is vital for staging and follow-up.Tumor marker tests (for advanced disease)
In people with known colorectal cancer, blood levels of markers such as carcinoembryonic antigen (CEA) may be measured to help monitor treatment and follow-up. This is not specific for FAP but is sometimes used in management.
Electrodiagnostic tests
Electrocardiogram (ECG) before major bowel surgery
An ECG records the electrical activity of the heart. It does not diagnose polyps, but it is part of the routine safety check before big operations such as colectomy. It helps find heart rhythm problems that could increase surgical risk.Nerve conduction or EMG studies in selected cases
These tests measure electrical signals in nerves and muscles. They are not used to diagnose FAP itself, but they may be done if a patient develops nerve problems, for example after certain chemotherapy drugs or due to another condition, to guide safe treatment.
Imaging and endoscopic tests
Colonoscopy (key test)
A flexible tube with a camera is passed through the anus to look at the entire colon and rectum. In FAP, colonoscopy shows many small adenomatous polyps, often hundreds or thousands. Polyps can be removed or sampled during the same procedure.Flexible sigmoidoscopy
This test looks only at the lower part of the colon (sigmoid and rectum). It may be used as an initial test or for surveillance in some settings, but full colonoscopy is usually preferred in FAP because polyps can occur throughout the colon.Upper gastrointestinal endoscopy and duodenoscopy
A thin scope is passed through the mouth into the esophagus, stomach, and duodenum. In FAP, this test is important to look for stomach and duodenal polyps, which can also turn into cancer and often need regular surveillance and treatment.CT or MRI scans of the abdomen and pelvis
CT (computed tomography) or MRI (magnetic resonance imaging) uses detailed pictures to look for cancers, lymph node spread, desmoid tumors, or other complications. These scans help in surgical planning and in checking for disease spread outside the bowel.
Non-pharmacological treatments (therapies and others)
1. Genetic counseling and family screening – Genetic counseling helps the person and their family understand the inheritance pattern, test results, cancer risks, and options for relatives. A counselor explains what the gene mutation means and who else in the family may need testing. This allows early diagnosis of at-risk family members, so screening and treatment can start before polyps turn into cancer.[3]
2. Regular colonoscopy with polyp removal – Colonoscopy is a camera test that allows the doctor to see the inside of the large bowel and remove polyps during the same procedure. In familial intestinal polyposis, colonoscopies usually start in childhood or teenage years and are repeated every 1–2 years, or even more often if many polyps are present. Removing polyps early lowers the chance that they will grow into colorectal cancer.[2][4]
3. Upper gastrointestinal endoscopy surveillance – Because polyps can also grow in the stomach and duodenum (first part of the small intestine), people with this condition usually undergo regular upper endoscopy. The doctor checks for polyps near the ampulla and in the stomach and can biopsy or remove them. Careful monitoring helps prevent serious complications like duodenal cancer.[2][5]
4. Personalized surveillance schedule – The number, size, and type of polyps are different from person to person. Specialist guidelines recommend that surveillance intervals and starting ages are tailored based on polyp burden, gene type, family history, and previous surgeries. This risk-based plan helps avoid both under- and over-treatment.[2][4]
5. Lifestyle and weight-management programs – Obesity, low physical activity, smoking, and heavy alcohol use are linked with higher colorectal cancer risk. Healthy weight, regular exercise, and avoiding tobacco and heavy drinking may help lower overall cancer risk and improve surgical and recovery outcomes, even though they cannot remove the genetic mutation.[6]
6. Physical activity programs – Regular moderate exercise (like brisk walking, cycling, or swimming) supports bowel health, improves weight control, and may reduce inflammation in the body. Activity also improves mood and recovery after operations. Exercise plans are usually adjusted around surgeries and any desmoid tumors or joint problems.[6]
7. Smoking and alcohol cessation support – Quitting smoking and limiting alcohol intake are important because both increase colorectal and other cancer risks. Counseling, apps, support groups, and sometimes medications can help people stop. This is especially important before and after bowel surgery to reduce complications and long-term cancer risk.[6]
8. Nutrition counseling – A dietitian who understands hereditary polyposis can help build an eating plan rich in fruits, vegetables, whole grains, and lean proteins, and lower in processed meat, refined sugars, and unhealthy fats. Good nutrition can support healing after surgery, reduce constipation or diarrhea, and improve overall quality of life.[6]
9. Psychological support and coping therapy – Living with a high cancer-risk condition can cause anxiety, depression, and stress about screening and surgery. Counseling, cognitive behavioral therapy, and family support groups help people manage these feelings, improve adherence to check-ups, and maintain a better quality of life.[7]
10. Pain and symptom self-monitoring – Keeping a simple diary about pain, bowel movements, rectal bleeding, and fatigue can help patients notice changes early. This information is very useful for doctors to adjust surveillance or treatment. It also gives patients a sense of control over their health.[7]
11. Education about warning signs – Clear teaching about symptoms such as new rectal bleeding, change in bowel habits, unexplained weight loss, severe abdominal pain, or vomiting helps patients know when to contact their doctor urgently. Early reporting of symptoms can lead to faster diagnosis of cancer or complications.[2]
12. Fertility and pregnancy counseling – Some surgeries and treatments may affect fertility or pregnancy planning. Counseling before surgery allows patients to discuss sperm or egg banking, pregnancy timing, and how to manage surveillance during pregnancy. This planning helps preserve future options and reduces stress later.[8]
13. Desmoid tumor monitoring with imaging – People with familial intestinal polyposis are at higher risk of desmoid tumors, especially after abdominal surgery. Regular clinical exams and targeted imaging such as MRI or CT are used to watch known desmoids and detect new ones. Early detection can guide non-drug and drug treatment choices.[2][9]
14. Pelvic floor and bowel-retraining physiotherapy – After large bowel surgeries, some people have frequent stools, urgency, or leakage. Specialized physiotherapy exercises can strengthen pelvic floor muscles, train bowel habits, and improve control. This can greatly improve comfort and social confidence.[10]
15. Ostomy care education (if a stoma is needed) – Some surgeries create a stoma (an opening on the abdomen for stool to pass into a bag). Stoma nurses teach patients how to care for the skin, change bags, and manage diet and activities. Good stoma care reduces skin problems and helps patients live an active life.[10]
16. Peer and family support groups – Meeting other people and families living with familial intestinal polyposis (in person or online) can reduce feelings of isolation. Peer groups share practical tips about surveillance, surgery, and daily life, and help with emotional support during difficult decisions.[7]
17. School and work planning – Young people and adults may need time off for colonoscopies and surgeries. Coordinating with schools or workplaces, planning flexible hours, and seeking accommodations can reduce stress and interruptions to education or career paths.[7]
18. Vaccination and infection-prevention advice – Before major surgery or immunosuppressive treatments, doctors may recommend staying up to date with vaccines (such as flu, COVID-19, hepatitis B). Good hand hygiene and food safety habits also help reduce infections during periods of increased vulnerability.[9]
19. Post-operative rehabilitation programs – After big abdominal operations, structured rehab that combines walking, breathing exercises, light strength training, and nutrition advice helps people regain strength and independence more quickly. Rehab programs can also reduce complications like blood clots.[10]
20. Digital tools and reminders – Many people find it helpful to use phone calendars, apps, or hospital portals to track appointments, test results, and medication schedules. Digital tools reduce missed visits and support long-term adherence to surveillance plans, which is crucial in familial intestinal polyposis.[4]
Drug treatments
Important: The drugs below are examples of medicines that doctors may use in selected patients with familial intestinal polyposis or its complications. They are not self-treatments. Exact drug choice, dose, and schedule must always be decided by a specialist doctor.
1. Celecoxib (Celebrex) – Celecoxib is a selective COX-2 inhibitor originally approved to help reduce colorectal polyps in familial adenomatous polyposis as an add-on to endoscopy and surgery.[2][11] It works by blocking COX-2, an enzyme involved in inflammation and polyp growth. Typical adult doses are given by mouth once or twice daily, but the FAP indication was later withdrawn after safety reviews, so its use in this setting is now off-label and highly individualized. Side effects can include stomach ulcers, kidney problems, and increased cardiovascular risk, so careful monitoring is required.[12]
2. Sulindac – Sulindac is a non-steroidal anti-inflammatory drug (NSAID) that has shown the ability to shrink or reduce the number of polyps in some patients with familial intestinal polyposis.[3][13] It is usually taken by mouth twice daily. Sulindac blocks COX enzymes and reduces prostaglandins that drive polyp growth. Common side effects include stomach irritation, ulcers, and kidney effects, so doctors balance its benefits and risks and often use it together with regular endoscopy.
3. Erlotinib (with sulindac in trials) – Erlotinib is an EGFR-blocking cancer drug. In clinical trials, combining erlotinib with sulindac reduced colorectal polyp burden in patients with familial adenomatous polyposis.[14] The medicine is taken by mouth once daily under strict oncology supervision. It works by blocking growth signals in polyp cells. Side effects can include skin rash, diarrhea, and fatigue. This combination is not routine everyday care and is usually limited to research settings.[14]
4. Low-dose aspirin – Low-dose aspirin has been studied for colorectal cancer prevention in various high-risk groups. It blocks COX-1 and COX-2 and reduces inflammatory prostaglandins and platelet activity, which may lower polyp and cancer risk.[6] However, aspirin can cause bleeding and stomach ulcers and is not started in children or teenagers without a specialist because of risks such as Reye syndrome. In familial intestinal polyposis, any use of aspirin is carefully weighed by the care team.
5. Capecitabine – Capecitabine is an oral chemotherapy drug used to treat colorectal cancer that may develop from polyps. It is converted in the body to 5-fluorouracil (5-FU) and blocks DNA synthesis in rapidly dividing tumor cells. Treatment is given in cycles, with days on the drug and rest periods. Side effects include diarrhea, hand–foot skin reactions, fatigue, and low blood counts, so patients are closely monitored in oncology clinics.[15]
6. 5-Fluorouracil (5-FU) with leucovorin – 5-FU is a backbone chemotherapy for colorectal cancer. It is given by intravenous infusion, often with leucovorin (folinic acid) to enhance its effect. The drug interferes with DNA and RNA synthesis in cancer cells. Schedules vary depending on the protocol. Side effects may include mouth sores, diarrhea, low blood counts, and hair thinning. In familial intestinal polyposis, 5-FU–based regimens are used when cancer forms from polyps.[15]
7. Oxaliplatin – Oxaliplatin is a platinum-based chemotherapy often combined with 5-FU (FOLFOX regimen) for colorectal cancer. It causes DNA cross-linking and cancer cell death. It is given by intravenous infusion every few weeks. Common side effects are numbness and tingling in hands and feet, nausea, and low blood counts. The goal is to remove or control cancer arising from polyps.[15]
8. Irinotecan – Irinotecan is another chemotherapy drug used in some colorectal cancer regimens (for example, FOLFIRI). It blocks an enzyme called topoisomerase I, which cancer cells need for DNA repair. It is given intravenously and can cause diarrhea, low blood counts, and hair loss. In familial intestinal polyposis, it is only used under expert oncology guidance when cancer has developed.[15]
9. Bevacizumab – Bevacizumab is a monoclonal antibody that blocks vascular endothelial growth factor (VEGF), reducing blood supply to tumors. It can be added to chemotherapy for advanced colorectal cancer. It is given by intravenous infusion every few weeks. Side effects may include high blood pressure, bleeding, and wound-healing problems, so it is stopped well before major surgery.[15]
10. Cetuximab – Cetuximab is an EGFR-targeted monoclonal antibody used in some types of metastatic colorectal cancer that have normal (wild-type) RAS genes. It is given as an infusion and works by blocking growth signals on cancer cell surfaces. Side effects include acne-like rash, infusion reactions, and low magnesium. Genetic testing of the tumor is needed before using cetuximab.[15]
11. Panitumumab – Panitumumab is another EGFR-targeted antibody for RAS wild-type metastatic colorectal cancer. It is completely humanized, which may lower infusion reactions compared with some other antibodies. It is given by intravenous infusion every two weeks. Side effects are similar to cetuximab, including skin rash and electrolyte changes.[15]
12. Imatinib – Imatinib is a small-molecule tyrosine kinase inhibitor mainly used for other cancers, but it has been tried in some aggressive desmoid tumors, which can occur in familial intestinal polyposis. It blocks several growth-promoting pathways in tumor cells. It is taken orally, commonly once daily, and side effects include swelling, muscle cramps, and fatigue. Its use is highly specialized.[9]
13. Sorafenib or regorafenib – These are multi-kinase inhibitors used for some refractory cancers and desmoid tumors. They work by blocking several signals that promote tumor growth and blood vessel formation. They are taken orally, usually in cycles. Side effects include high blood pressure, hand–foot skin reactions, and fatigue, so regular monitoring is essential.[9]
14. Tamoxifen – Tamoxifen is a selective estrogen receptor modulator mostly known for breast cancer treatment, but it has also been used for desmoid tumors in familial polyposis. It may slow tumor growth in some people by interfering with estrogen-related pathways. It is taken by mouth, often once or twice daily. Side effects can include hot flashes, blood-clot risk, and mood changes.[9]
15. Proton-pump inhibitors (for example, omeprazole) – When NSAIDs like sulindac or celecoxib are used, doctors may also prescribe proton-pump inhibitors to protect the stomach lining and reduce ulcer risk. These drugs reduce acid production in the stomach. Side effects can include headache and, with long-term use, possible changes in mineral absorption. They do not treat polyps directly but make some other drugs safer.[12]
16. Loperamide (symptom control) – After bowel surgery or during chemotherapy, some patients have troublesome diarrhea. Loperamide slows gut movement and helps firm stools. It is taken by mouth as needed under medical advice. Side effects can include constipation or, rarely, more serious bowel problems if misused, so dosing instructions must be followed carefully.[10]
17. Oral or intravenous iron therapy – Chronic bleeding from polyps or from surgery can cause iron-deficiency anemia. Iron tablets or intravenous iron infusions restore iron stores and raise hemoglobin levels. Correcting anemia improves energy, exercise tolerance, and readiness for surgery. Side effects of oral iron include constipation or stomach upset.[6]
18. Antiemetics (for example, ondansetron) – Chemotherapy for colorectal cancer can cause nausea and vomiting. Antiemetic drugs like ondansetron block serotonin receptors in the brain and gut to reduce this symptom. They are given by mouth or injection before and after chemo sessions. Side effects can include constipation and mild headache.[15]
19. Short-term antibiotics (peri-operative) – Around the time of colorectal surgery, short courses of antibiotics are often used to reduce infection risk. They are given intravenously just before incision and sometimes continued briefly afterward. Appropriate antibiotic choice lowers the chance of wound and abdominal infections after major operations.[10]
20. Pain-relief medicines (for example, paracetamol/acetaminophen) – After surgery or during flare-ups, simple pain relievers like acetaminophen are often preferred because they do not increase bleeding risk as much as NSAIDs. They are used at safe doses for a limited time. Overdose can damage the liver, so it is important to follow medical advice and avoid double-dosing from multiple products.[10]
Dietary molecular supplements
Note: These supplements are not cures. Evidence in familial intestinal polyposis is limited, and all supplements should be discussed with a doctor to avoid interactions with surgery, NSAIDs, or chemotherapy.
1. Calcium – Calcium supplements may modestly reduce the risk of colorectal adenomas in some people by binding bile acids and fatty acids in the gut and reducing irritation of the bowel lining.[6] Doses often fall in the range used for bone health, but exact amounts should be agreed with a doctor to avoid kidney stones or interactions with other medicines.
2. Vitamin D – Vitamin D supports immune function, bone strength, and may play a role in controlling cell growth in the bowel. Low blood vitamin D levels are common and can be corrected with supplements. Doctors often check blood levels and choose a dose that slowly brings them into the normal range, while monitoring for safety.[6]
3. Folate and vitamin B12 – Folate and B12 are needed for DNA repair and normal cell division. Deficiencies may worsen anemia and can affect rapidly dividing tissues such as the bowel lining. Supplements are used if blood tests show low levels. Large, unsupervised doses are avoided because the relationship between high folate and cancer is complex.[6]
4. Omega-3 fatty acids (fish oil) – Omega-3 fats have anti-inflammatory effects and may influence cell membrane signaling in the gut. They are often taken as fish-oil capsules in doses similar to those used for heart health. Side effects can include fishy aftertaste and, at higher doses, a small increased bleeding tendency, so they must be used carefully with blood-thinning or NSAID medicines.[6]
5. Curcumin (from turmeric) – Curcumin is a plant compound with anti-inflammatory and antioxidant properties. Early research has explored its effects on colorectal polyps, sometimes in combination with other agents.[11] Because absorption is limited, many products combine curcumin with piperine or special formulations. Curcumin can interact with blood-thinning drugs, so medical advice is important.
6. Green tea extract (EGCG) – Green tea catechins such as EGCG have antioxidant and cell-signaling effects. Some studies suggest they may influence polyp growth, but the evidence is still modest.[11] Concentrated extracts can cause liver irritation at high doses, so only quality-controlled products and doctor-approved doses should be used.
7. Resveratrol – Resveratrol is a polyphenol found in grapes and berries. In laboratory studies, it can affect pathways that control cell growth and death. Human data in familial intestinal polyposis are limited, so any use is experimental and should be cautious. Usual supplemental doses are modest and taken with food to reduce stomach upset.[11]
8. Selenium – Selenium is a trace mineral involved in antioxidant enzymes. Some research links adequate selenium intake to lower cancer risk, but results are mixed. Supplements, if used, usually provide amounts close to the recommended daily intake, because high doses can be toxic and cause hair loss, nail brittleness, and nerve problems.[6]
9. Probiotics – Probiotic products contain beneficial bacteria that may help balance the gut microbiome, reduce inflammation, and improve bowel function after surgery or antibiotics. They are taken as capsules or yogurts. Different strains have different effects, and evidence in familial intestinal polyposis is still emerging, so they are used as supportive care rather than core treatment.[6]
10. Resistant starch or fiber supplements – Supplements such as psyllium husk or inulin can increase stool bulk, support healthy bowel bacteria, and reduce constipation. They must be introduced gradually with adequate fluid to avoid bloating. After major surgery or during flare-ups, the care team may adjust fiber intake based on symptoms.[6]
Immunity-boosting and regenerative / stem-cell-related drugs
These medicines are only used in special situations, mainly to support the body during chemotherapy or very intensive treatment, not to treat polyps directly.
1. Filgrastim (G-CSF) – Filgrastim is a growth factor that stimulates the bone marrow to make more neutrophils, a type of white blood cell that fights infection. It is given by injection when chemotherapy has caused very low white cell counts. It shortens the time of severe neutropenia and lowers infection risk, but can cause bone pain and, rarely, spleen problems.[15]
2. Epoetin alfa or darbepoetin alfa – These drugs stimulate red blood cell production and may be used in selected cancer patients with chemotherapy-related anemia when other options are unsuitable. They are given by injection and require careful dosing, as excessive use can raise blood clot risk. They are not routine for all patients and are guided by strict safety guidelines.[15]
3. Thrombopoietin receptor agonists (for example, eltrombopag) – These medicines can stimulate platelet production in certain low-platelet conditions. In the context of cancer therapy, they may be considered when platelets are dangerously low and bleeding risk is high. They are taken by mouth and need close monitoring of liver function and clot risk.[15]
4. Intravenous immunoglobulin (IVIG) – IVIG is a concentrated mix of antibodies from donors. In rare immune complications, it can help support the immune system, neutralize harmful antibodies, or reduce severe inflammation. It is given by intravenous infusion in hospital and can cause headache, chills, or kidney stress, so careful supervision is needed.[15]
5. Autologous hematopoietic stem cell transplantation – In some very advanced or unusual cases of cancer, high-dose chemotherapy followed by reinfusion of the patient’s own stored stem cells may be considered. This allows very strong chemo to be given, then restores bone marrow function. It is a complex hospital procedure with significant risks and is not routine care for typical familial intestinal polyposis.[15]
6. Experimental mesenchymal stem-cell therapies – Some research trials are exploring mesenchymal stem cells to help repair intestinal damage or modulate immune responses. These approaches are still experimental and are only available in well-regulated clinical trials. People should avoid commercial “stem-cell clinics” that are not part of approved studies because of safety and ethical concerns.[9]
Surgeries
1. Total proctocolectomy with ileal pouch–anal anastomosis (IPAA) – In this surgery, the surgeon removes the entire colon and rectum, then creates a small internal pouch from the end of the small intestine and connects it to the anus. This allows stool to pass through the normal opening without a permanent stoma. It is often chosen for younger patients with many rectal polyps or very high cancer risk, because it removes almost all large-bowel tissue.[2][4]
2. Subtotal colectomy with ileorectal anastomosis (IRA) – Here the colon is removed but the rectum is left in place and connected to the small intestine. This operation preserves rectal function and can offer better bowel control, but the remaining rectum still develops polyps, so lifelong intensive rectal surveillance is needed. Doctors choose this when rectal polyp burden is lower and the patient can commit to regular check-ups.[2][4]
3. Segmental or limited colorectal resections – In some patients with attenuated forms of familial intestinal polyposis or in older patients, surgeons may remove only the part of the colon with the highest polyp burden or cancer. This can delay or avoid larger operations but requires careful follow-up, as remaining bowel segments can still form polyps over time.[2]
4. Duodenal or periampullary surgery – When large or advanced polyps appear in the duodenum or near the ampulla, endoscopic removal may not be enough. In selected cases, more extensive operations (such as local resections or even pancreaticoduodenectomy) may be needed to prevent or treat cancer. These surgeries are major and are done in high-volume centers with experienced teams.[5]
5. Desmoid tumor and metastasis surgery – Desmoid tumors and colorectal cancer metastases may sometimes be removable by surgery. Operations can relieve symptoms such as pain or obstruction and, in cancer, may improve survival. However, desmoid surgery can sometimes trigger more desmoid growth, so doctors carefully weigh benefits versus risks and often consider non-surgical treatments first.[9]
Prevention and risk reduction
1. Genetic testing of at-risk relatives – When a gene change is found in one family member, testing close relatives allows early diagnosis of those who also carry the mutation. Those who test negative can often stop intense screening, while those who test positive start proper surveillance early.[3][4]
2. Following the recommended endoscopy schedule – Sticking to colonoscopy and upper endoscopy timetables is one of the most powerful ways to prevent cancer. Most cancers in this condition can be caught at a very early stage or even prevented if surveillance is regular and thorough.[2][4]
3. Choosing surgery at the right time – Guidelines suggest performing prophylactic colectomy before the polyp burden becomes unmanageable or cancer appears. Making this decision in partnership with a specialist team helps balance cancer risk with quality of life.[2]
4. Avoiding smoking – Smoking increases overall cancer risk and may worsen outcomes after surgery. Not starting, or quitting as early as possible, is a major preventive step for long-term health.[6]
5. Limiting alcohol – Keeping alcohol intake low or avoiding it completely can reduce the risk of several cancers and liver disease. This is especially important when taking medicines that may affect the liver or when recovering from major operations.[6]
6. Maintaining a healthy body weight – Excess body weight and central obesity are linked to higher colorectal cancer risk. Eating a balanced diet and staying physically active can help reach and maintain a healthy weight, supporting both bowel and heart health.[6]
7. Eating a plant-rich, high-fiber diet – Regular intake of vegetables, fruits, legumes, and whole grains supports a healthy gut microbiome and faster stool transit. Though diet cannot remove polyps, it may help reduce general colorectal cancer risk and improve bowel function after surgery.[6]
8. Limiting processed and red meats – Frequent intake of processed meat (like sausages and deli meats) and large amounts of red meat are associated with higher colorectal cancer risk. Reducing these foods and using healthier protein sources such as fish, poultry, or plant proteins is usually recommended.[6]
9. Sun protection and overall skin care – Some treatments and genetic changes may slightly alter skin cancer risk. Using sunscreen, avoiding tanning beds, and checking the skin regularly are practical preventive steps, even though the main risk in this condition is intestinal.[6]
10. Careful long-term follow-up in a specialist center – The most important preventive step is staying linked to a clinic that regularly treats hereditary colorectal cancer syndromes. Specialist teams keep up to date with new guidelines, drug options, and research trials and can adjust care plans across a person’s lifetime.[2]
When to see doctors
People with familial intestinal polyposis should stay in regular contact with their specialist team, but there are times when urgent or earlier review is needed. New or increasing rectal bleeding, black or very dark stools, or passing clots should prompt rapid medical attention. Persistent change in bowel habits, especially new diarrhea or constipation lasting more than a few weeks, or stools becoming very narrow, can be warning signs that need investigation. Unexplained weight loss, ongoing tiredness, or shortness of breath can suggest anemia or more advanced disease and should be checked quickly.[2]
Severe or cramping abdominal pain, vomiting, a swollen abdomen, or inability to pass stool or gas may mean bowel blockage and is an emergency that requires immediate hospital care. After surgery, fever, increasing pain, redness around wounds, or sudden changes in stoma output also need quick review. Anyone with this condition, or with a strong family history of early colorectal cancer or many polyps, should seek specialist advice as soon as possible rather than waiting for routine check-ups.[2][10]
What to eat and what to avoid
1. Eat plenty of vegetables and fruits – Aim for several servings of colorful vegetables and fruits daily to provide fiber, vitamins, and antioxidants that support bowel and immune health. Soft-cooked options may be easier right after surgery.[6]
2. Choose whole grains – Foods like oats, brown rice, and whole-grain bread provide more fiber than refined grains and help regulate bowel movements. In some people with new pouches or strictures, fiber intake may need adjustment under dietitian guidance.[6]
3. Include lean proteins – Fish, poultry without skin, eggs, beans, and lentils are good protein sources for healing and muscle maintenance. After surgery, higher protein intake is often needed to support recovery.[6]
4. Use healthy fats – Olive oil, nuts, seeds, and avocado provide healthier fats that support heart and brain function. They can replace saturated fats from butter and fatty meats.[6]
5. Drink enough fluids – Hydration is very important, especially after bowel surgery or with a pouch or stoma. Water and oral rehydration solutions are often best. Sugary drinks should be limited, and alcohol kept low or avoided.[6]
6. Limit processed and red meat – Try to keep intake of bacon, sausages, hot dogs, and large red-meat portions low because they are linked with higher colorectal cancer risk. Use poultry, fish, or plant proteins more often.[6]
7. Avoid heavily charred foods – Cooking meat over very high heat until very charred creates compounds that may damage the bowel lining. Gentle cooking methods such as steaming, baking, or stewing are safer.[6]
8. Go easy on very greasy or spicy foods – After major bowel surgery, very fatty or hot spicy meals can trigger cramps or diarrhea in many people. It can help to reintroduce such foods slowly and see how the body reacts.[10]
9. Be cautious with very high-fiber or gas-producing foods at first – Soon after surgery or with strictures, large amounts of raw vegetables, popcorn, nuts, or tough skins can cause discomfort or blockage. Dietitians often suggest a gradual return to higher-fiber foods.[10]
10. Avoid unproven “cancer-cure” diets or extreme restrictions – Strict diets that cut out whole food groups without medical advice can lead to malnutrition and do not remove the genetic risk. A balanced, enjoyable way of eating that fits medical advice is safer and more sustainable.[6]
Frequently asked questions (FAQs)
1. Is familial intestinal polyposis the same as familial adenomatous polyposis (FAP)?
In many texts, “familial intestinal polyposis” refers to familial adenomatous polyposis, a condition with hundreds to thousands of adenomatous polyps in the colon and rectum due to an APC gene mutation. Some centers use slightly different names, but the core idea is the same: many hereditary polyps with a very high colorectal cancer risk if not managed.[1][2]
2. Can I prevent the genetic mutation from happening or going away?
No current treatment can remove the inherited mutation from the body’s cells. However, regular surveillance, timely surgery, and healthy lifestyle habits can greatly reduce the chance of dying from colorectal cancer. Modern care focuses on managing risk, not changing the gene.[2][4]
3. At what age does screening usually start?
For classic forms, colonoscopic surveillance often begins around age 10–12 years, and upper endoscopy starts in late teens or early adulthood, though exact ages can vary slightly between guidelines.[2][5] Screening in at-risk children is coordinated by pediatric and genetic specialists.
4. Will I definitely need bowel surgery?
Most people with classic familial intestinal polyposis eventually need a colectomy, because polyp numbers become too high to manage safely with endoscopy alone. The exact timing and type of surgery depend on polyp burden, rectal involvement, age, family plans, and other health factors.[2]
5. Which is better: IPAA or IRA?
Both ileal pouch–anal anastomosis (IPAA) and ileorectal anastomosis (IRA) have pros and cons. IPAA removes all rectal tissue and lowers rectal cancer risk but can lead to more frequent stools. IRA preserves the rectum and often gives more natural bowel function but needs very close rectal surveillance because polyps keep forming.[2][4] The team helps choose based on individual needs.
6. Are medicines like celecoxib or sulindac enough to avoid surgery?
Current evidence shows that NSAIDs such as celecoxib or sulindac can reduce the number or size of polyps in some patients, but they do not remove the need for surveillance or surgery and do not guarantee cancer prevention.[3][11][13] They are considered add-on tools in selected cases, not stand-alone cures.
7. Why was the FAP indication for celecoxib withdrawn?
Celecoxib was once approved to help reduce polyps in FAP but later the company asked for removal of this specific indication, and regulators withdrew it after reviewing benefit–risk and safety concerns.[12] Doctors may still sometimes use celecoxib off-label in this setting, but only with careful risk assessment and monitoring.
8. Can diet alone control the polyps?
Diet can support overall health and may influence general colorectal cancer risk, but it cannot remove the genetic mutation or fully stop polyp formation in familial intestinal polyposis. Endoscopy and, for most people, surgery remain the main tools for cancer prevention.[2][6]
9. Will my children definitely get this condition?
If you have an APC gene mutation, each child has a 50% chance of inheriting it. Genetic counseling can explain testing options for children at an appropriate age and help families make informed choices.[3]
10. How often will I need colonoscopies after surgery?
After colectomy with ileorectal anastomosis, the remaining rectum usually needs endoscopic checks every 6–12 months, depending on polyp burden. After IPAA, the pouch and any remaining rectal cuff also need regular checks, though intervals may be a bit longer if polyp numbers are low.[2][4]
11. Can I live a normal life after surgery?
Many people return to study, work, sport, and family life after recovery from surgery. Bowel habits may change (more frequent or softer stools), but with diet adjustments, pelvic-floor exercises, and sometimes medicines, most people adapt well. Psychological and peer support can help during this transition.[7][10]
12. Are there special cancer risks outside the bowel?
Yes. People with familial intestinal polyposis may have higher risks of certain other cancers, such as duodenal, thyroid, and sometimes liver or pancreatic cancers, as well as desmoid tumors.[2][9] Surveillance plans often include thyroid checks and upper endoscopy, and any new symptoms are taken seriously.
13. Is pregnancy safe if I have this condition?
Many people with familial intestinal polyposis have healthy pregnancies. However, previous surgeries and desmoid risk can affect pregnancy planning. It is important to discuss pregnancy with both the hereditary cancer team and obstetricians beforehand so that surveillance and delivery plans can be adjusted.[8]
14. Should I join a clinical trial?
Clinical trials test new drugs, combinations, or surveillance strategies. Participation may give access to promising treatments and helps improve future care. Whether to join a trial depends on eligibility, personal values, and the advice of the specialist team. Trials are carefully reviewed for safety and ethics.[9][14]
15. Is all of this information a replacement for my doctor’s advice?
No. This information is a general educational guide to help you understand familial intestinal polyposis, its treatments, and lifestyle issues. It does not replace medical advice, diagnosis, or treatment from your own doctors. Always discuss any changes in medicines, diet, or supplements with your healthcare team.
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: January 27, 2025.
