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Familial Adenomatous Polyposis

Familial Adenomatous Polyposis treatment
  • Familial adenomatous polyposis (called “FAP” here) is a disease that causes abnormal growths within the bowel (also called the colon), rectum, and other areas. Gastroenterologists call these growths “polyps.” they’re not cancer, but can become cancer.
    Most people with FAP have hundreds or thousands of polyps. This suggests they have a way higher risk of colon cancer than others. Without treatment, the majority of people who have FAP get colon cancer by age 45. Some people have a milder variety of FAP that causes fewer polyps. People with FAP also can develop cancer of the stomach, small intestine, thyroid, pancreas, or brain. FAP is caused by an abnormal gene that runs in families. Those who have FAP usually start showing signs of it in their teens or 20s. But some people get it in childhood.

  • FAP may not cause any symptoms. If it does, symptoms can include:
    • Bright red blood in bowel movements
    • Diarrhoea – Runny, watery bowel movements
    • Constipation – Trouble having bowel movements
    • Belly cramps
    • Weight loss
    • Bloating – Feeling just like the belly is full all the time
    • Tiredness
    If someone in your family has FAP, you might have regular tests to check for it. Your Gastroenterologist might find it before you have symptoms.

Yes. Your Gastroenterologist will do an exam and find out about any symptoms you have. you may also have the following tests:

  • A test called a “colonoscopy” – during this test, the Gastroenterologist puts a tube and a small camera through your anus and into your colon. During the test, he or she will check for polyps and take samples of tissue for testing. Another doctor looks at the tissue under a microscope. It can show if you have FAP or a special condition.
    • A test called a “sigmoidoscopy” – This test is very similar to a colonoscopy, but it only looks at the last part of the colon, near the rectum.
    • A test called an “upper endoscopy” – This test uses a tube and tiny camera to test the upper digestive system. The Gastroenterologist can also take samples of tissue during this test.
    • Genetic testing – this is often a blood test to look for the abnormal gene that causes FAP. Before the test, you may talk with a genetic counsellor. A genetic counsellor may be a person who can help you understand what having the gene could mean for you and your family.
    You might have these tests in a different order or more than once. As an example, if someone in your family has FAP, you may have genetic testing to determine if you’ve got the abnormal gene. otherwise you might need a colonoscopy to look for polyps. If a genetic test shows you have FAP, you may have a colonoscopy or flexible sigmoidoscopy and upper endoscopy. The tests can show your Gastroenterologist how many polyps you’ve got and where they are.

If you have FAP, your doctor might do exams or tests to look for other kinds of cancer, like thyroid cancer.

Treatment depends on your situation. Treatments include:
• Surgery to remove the colon – this can be called a “colectomy.” It’s the main treatment for FAP. Taking away the tissue with polyps lowers the chance of cancer.
• Polyp removal – Some people have a milder kind of FAP that causes fewer polyps. Sometimes, Gastroenterologists can remove polyps during a colonoscopy or endoscopy instead of doing a colectomy. Your Gastroenterologist will talk with you about the treatment most likely to prevent cancer in your situation.

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Familial Adenomatous Polyposis

Know your genetic risks

Know your genetic risks

You are here >> Home > Blog > Large Bowel > Cancer > Familial Adenomatous Polyposis

Have you ever thought about Familial Adenomatous Polyposis (FAP)? FAP is a genetic condition that, if left untreated, can lead to colorectal cancer. In this post, we’ll explain the symptoms, causes, and how you can recognize it in simple, easy-to-understand terms.

Summary

Familial Adenomatous Polyposis (FAP) is a genetic condition where hundreds to thousands of polyps form in the lining of the colon and rectum. These polyps can eventually turn into cancer if not treated. 
 
FAP is usually diagnosed in adolescence or early adulthood and is managed through regular screenings, surgery, and sometimes medication.
FAP is caused by a mutation in the APC gene, which is inherited from a parent. In some cases, the mutation can occur spontaneously without a family history.
Common symptoms include abdominal pain, blood in the stool, changes in bowel habits, unexplained weight loss, and anemia due to bleeding.
Doctors diagnose FAP through genetic testing, colonoscopy, and imaging tests. Early detection and treatment are essential to prevent the progression to colorectal cancer.
Familial Adenomatous Polyposis - Know your genetic risks

Facts

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Symptoms

Causes

Diagnosis

Treatments

Surveillance Recommendations

Surveillance is crucial for managing FAP. Recommendations vary by age and risk factors, such as family history or APC mutation. The table below details screening procedures and frequencies for different age groups to help prevent cancer progression.
Age Group Recommended Screening Frequency Additional Notes
Adolescence (10-15) Colonoscopy, Genetic Testing Every 1-2 years Especially if family history or APC mutation confirmed
Young Adults (15-30) Colonoscopy, Upper Endoscopy Annually Polyps typically start forming in the teenage years
Adults (30-50) Colonoscopy, Sigmoidoscopy Annually or bi-annually Polyp growth increases, leading to higher cancer risks
High-risk Patients MRI or CT Colonography Every 6 months to 1 year For those with previous polyps or early-stage cancer

Questions to Ask Your Doctor

Frequently Asked Questions

What is Familial Adenomatous Polyposis (FAP)?
FAP is a genetic condition where hundreds to thousands of polyps form in the colon and rectum, increasing the risk of colorectal cancer if not treated early.
Is FAP inherited?
Yes, FAP is inherited in an autosomal dominant manner, meaning a person only needs one mutated gene from a parent to develop the condition.
At what age does FAP usually develop?
FAP typically develops in teenagers or young adults, but polyps can start forming in childhood.
How is FAP diagnosed?
FAP is diagnosed through genetic testing and by performing a colonoscopy to check for the presence of multiple polyps.
Can FAP lead to cancer?
Yes, if untreated, nearly all individuals with FAP will develop colorectal cancer by the age of 40 or 50.
Is surgery necessary for FAP?
Surgery to remove the colon (colectomy) is often recommended to prevent cancer in people with FAP.
Can FAP affect other parts of the body?
Yes, FAP can lead to polyps in other areas, such as the stomach and small intestine, and can also cause non-polyp-related conditions like desmoid tumors.
How is FAP managed?
Regular screenings, including colonoscopies and genetic counseling, along with surgery when necessary, are key to managing FAP.
Can FAP be cured?
There is no cure for FAP, but early detection and preventive treatments, such as surgery, can significantly reduce cancer risks.
What are the symptoms of FAP?
FAP may not cause early symptoms, but as polyps grow, symptoms like abdominal pain, rectal bleeding, or changes in bowel habits can appear.
Dr-Harsh-Shah-Robotic-Cancer-Surgeon

Dr. Harsh Shah

MS, MCh (GI cancer Surgeon)

Dr Harsh Shah is a well known GI & HPB Robotic Cancer Surgeon in ahmedabad. He treats cancers of esophagus, stomach, liver, pancreas, colon, rectum & small intestines. He is available at Apollo Hospital.

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Dr. Harsh J Shah

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