familial adenomatous polyposis 2

Familial Adenomatous Polyposis (FAP): A Rare Inherited Condition

FAP is a rare, inherited disorder characterized by cancer of the large intestine (colon) and rectum. This condition is caused by a defect in the adenomatous polyposis coli (APC) gene, which leads to the development of hundreds or thousands of polyps inside the colon and rectum.

Key Features of FAP:

• Inherited Condition: FAP is an inherited disorder that affects the gastrointestinal tract.
• Polyp Formation: Hundreds or thousands of polyps form on the inner walls of the colon and rectum, which are abnormal growths that can potentially become cancerous.
• Increased Risk of Colon Cancer: The lifetime risk of developing colon cancer in individuals with FAP is near 100%.

Early Onset and Progression:

FAP typically starts to manifest during the second decade of life, with polyps appearing in the rectum and colon. If left untreated, these polyps can progress to colorectal cancer.

References:

• [1] Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum.
• [2] Oct 1, 2013
• [4] Familial adenomatous polyposis (FAP) is a hereditary syndrome that predisposes you to developing colon cancer. The lifetime risk is near 100%.
• [5] An inherited disorder in which many polyps (usually hundreds to thousands) form on the inner walls of the colon and rectum. Polyps are abnormal growths that ...
• [6] FAP causes hundreds or thousands of small growths in the the large bowel. These are called polyps or adenomas. They usually start to appear when a person is in ...

Signs and Symptoms of Familial Adenomatous Polyposis (FAP)

Familial adenomatous polyposis (FAP) is a rare inherited cancer predisposition syndrome characterized by hundreds to thousands of precancerous colorectal polyps in the colon and rectum. The signs and symptoms of FAP can vary from person to person, but here are some common ones:

• Dermatofibromas: These are fibrous, scar-like lumps that form just under the skin.
• Epidermal cysts: These are dome-shaped growths on the skin's surface.
• Abdominal pain and cramping: People with FAP may experience abdominal pain and cramping due to the presence of polyps in the colon and rectum.
• Vomiting (with blood): In some cases, people with FAP may vomit blood or have bleeding with bowel movements secondary to the polyps.
• Bleeding: Rectal bleeding is a common symptom of FAP, often occurring without any other symptoms.

It's worth noting that many patients with FAP are asymptomatic, and rectal bleeding is typically occult (hidden). However, when symptoms do occur, they can be nonspecific and may include constipation or diarrhea, abdominal pain, palpable abdominal masses, and weight loss.

Diagnostic Tests for Familial Adenomatous Polyposis 2 (FAP)

Familial adenomatous polyposis 2 (FAP) is a genetic disorder that predisposes individuals to colorectal cancer. Diagnostic tests are essential for identifying FAP and preventing its progression to cancer.

• Genetic Testing: Genetic testing is the primary diagnostic method for FAP. A simple blood test can determine if you have the APC gene mutation associated with FAP [2]. This test involves checking a sample of blood for an APC gene variant.
• Clinical Findings: Clinical findings, such as the number and history of colorectal adenomatous polyps, are also used to diagnose FAP. Individuals with 100 or more polyps are typically diagnosed with FAP [5].
• Screening Tests: Regular screening tests, such as sigmoidoscopy or colonoscopy, can help identify individuals at risk for FAP. These tests involve examining the colon and rectum for polyps every one to two years, beginning at age 10-12 [8].

Recommended Diagnostic Approaches

The National Comprehensive Cancer Network (NCCN) recommends APC or MUTYH gene testing for individuals with a personal history of >20 adenomas, individuals with a known deleterious familial mutation, and those with a family history of FAP [9]. Genetic Testing Registry: Familial adenomatous polyposis 2 from the National Institutes of Health also suggests genetic testing as the preferred diagnostic method [7].

Commercially Available Tests

A commercially available test for FAP is DNA from peripheral blood, which can be used to diagnose the proband patient (patient with FAP) [6]. This test is considered the genetic test of choice for diagnosing FAP.

References: [1] Not applicable [2] Context 2 [5] Context 5 [7] Context 7 [8] Context 8 [9] Context 9

Treatment Options for Familial Adenomatous Polyposis (FAP)

Familial adenomatous polyposis (FAP) is a genetic disorder characterized by the development of numerous polyps in the colon and rectum. If left untreated, it can lead to colorectal cancer. Fortunately, various treatment options are available to manage FAP.

Medications

Several medications have been investigated as potential treatments for FAP:

• Celecoxib: A COX-2 inhibitor that has been shown to reduce the number of polyps in patients with FAP [1][4]. Studies suggest that a daily dosage of 16 mg/kg/day is effective in reducing polyp numbers [1].
• Sulindac: A nonsteroidal anti-inflammatory drug (NSAID) that can serve as a chemoprevention therapy for managing polyps in the duodenum [2][8]. It has also been used in combination with other medications to treat FAP.
• Erlotinib and Sulindac: A combination treatment that decreased the number of adenomatous polyps in patients with FAP [3].

Other Treatments

In addition to medication, other treatments are available for FAP:

• Surgery: Treatment of familial adenomatous polyposis (FAP) and other colorectal conditions will usually involve a form of colorectal surgery [5].
• Metformin Therapy: One-year metformin therapy has been found to be safe and effective in patients with FAP, potentially mediated by modulating the intestinal flora [7].

Important Considerations

It's essential to consult with a healthcare professional to determine the best course of treatment for individual cases of FAP. They can help you weigh the benefits and risks of each option and make an informed decision.

References:

[1] Luo et al. (no date) - Conclusion: The most effective treatment for reducing the number of colorectal polyps is celecoxib 16 mg/kg/day. [2] Apr 16, 2019 - These agents are used to reduce the number and the size of adenomatous polyps that remain in the rectum or ileal pouch after colectomy in patients with FAP. [3] Mar 14, 2018 - In people with familial adenomatous polyposis, or FAP, a combination treatment of erlotinib (Tarceva) and sulindac (Aflodac) decreased the ... [4] Kim et al. (2011) - The nonsteroidal anti-inflammatory drug (NSAID) sulindac and selective cyclooxygenase-2 (COX-2) inhibitor celecoxib reduce polyposis of the retained rectum ... [5] Mar 14, 2018 - Treatment of familial adenomatous polyposis (FAP) and other colorectal conditions will usually involve a form of colorectal surgery. [6] Drugs used to treat Familial Adenomatous Polyposis ; Generic name: celecoxib systemic; Brand name: Celebrex; Drug class: cox-2 inhibitors; For consumers: dosage, ... [7] Zhou et al. (2024) - One-year metformin therapy for FAP is safe and effective, potentially mediated by modulating the intestinal flora. [8] Feb 23, 2022 - The anti-inflammatory drug sulindac can serve as a chemoprevention therapy as an alternative approach to managing polyps in the duodenum.

Differential Diagnosis of Familial Adenomatous Polyposis (FAP)

Familial adenomatous polyposis (FAP) is a rare inherited cancer predisposition syndrome characterized by hundreds to thousands of precancerous colorectal polyps. To accurately diagnose FAP, it's essential to differentiate it from other disorders that cause multiple polyps.

Other Disorders to Consider:

• Peutz-Jeghers Syndrome: A genetic disorder characterized by the growth of polyps in the gastrointestinal tract and an increased risk of certain cancers.
• Juvenile Polyposis Syndrome: A rare condition where multiple polyps develop in the colon, often leading to cancer.
• Cronkhite-Canada Syndrome: A rare disorder that causes multiple polyps in the gastrointestinal tract, as well as other symptoms such as skin changes and hair loss.

Key Diagnostic Features:

• The presence of at least 100 polyps in FAP, or 20 for Attenuated Familial Adenomatous Polyposis (AFAP)
• The APC mutation is a key factor in the diagnosis of FAP
• Other disorders may have similar symptoms, but the specific genetic mutations and clinical features can help differentiate them from FAP

References:

• [1] - Familial adenomatous polyposis must be differentiated from other diseases that cause multiple polyps, such as Peutz–Jeghers syndrome, juvenile polyposis syndrome, Cronkhite-Canada syndrome. (Source: Search Result 6)
• [2] - Differential diagnosis of FAP includes hamartomatous polyps such as those in Peutz-Jeghers syndrome. (Source: Search Result 3)
• [3] - The APC mutation is a key factor in the diagnosis of FAP. (Source: Search Result 4)