Fap: Causes, Symptoms, And Treatment

Familial Adenomatous Polyposis (FAP) is a genetic disorder that increases the risk of developing colorectal cancer. It is caused by a mutation in a gene that regulates cell growth in the colon. This mutation leads to the formation of numerous polyps in the colon, which can eventually become cancerous if not treated.

Understanding the genetic component of FAP can help individuals make informed decisions about their health and seek appropriate medical care. By staying informed and working closely with healthcare providers, individuals with FAP can take proactive steps to manage their condition and reduce their risk of developing colorectal cancer.

What Are the Symptoms of Fap

Familial adenomatous polyposis (FAP) may cause symptoms like changes in bowel habits, abdominal pain, blood in stool, and unexplained weight loss. Patients may also experience fatigue, anemia, and a feeling of fullness in the abdomen. It's important to consult a healthcare provider if you notice any of these symptoms to receive proper evaluation and care.

Persistent stomach pain and cramping: Individuals with familial adenomatous polyposis (FAP) may experience ongoing abdominal discomfort and cramps that do not resolve easily.
Frequent changes in bowel habits: FAP can lead to alterations in bowel movements, such as diarrhea, constipation, or alternating between the two, which may disrupt daily routines.
Unexplained weight loss: Significant weight loss without intentional dieting or exercise can be a symptom of FAP, indicating potential issues with nutrient absorption or metabolism.
Blood in stool or rectal bleeding: Rectal bleeding or noticing blood in the stool can be alarming signs of FAP and should prompt further evaluation by a healthcare provider.

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Causes of Fap

These polyps can eventually progress to cancer if left untreated. Inherited in an autosomal dominant pattern, individuals with a family history of FAP are at a higher risk of developing the condition due to genetic factors. Early detection and genetic testing are crucial for managing FAP effectively.

Familial Adenomatous Polyposis (FAP) is primarily caused by mutations in the APC gene, which is responsible for regulating cell growth in the colon.
In some cases, individuals with a family history of FAP inherit the mutated gene from a parent, leading to an increased risk of developing the condition.
Sporadic mutations in the APC gene can also occur, resulting in the development of FAP in individuals with no family history of the condition.
Certain environmental factors, such as a high-fat diet or exposure to certain chemicals, may contribute to the development of FAP in susceptible individuals.
Rarely, FAP can be associated with other genetic conditions, such as Gardner syndrome, which

Types of Fap

Familial adenomatous polyposis (FAP) has two main types: classic and attenuated. Classic FAP presents with hundreds to thousands of polyps in the colon, while attenuated FAP has fewer polyps. Both types increase the risk of colorectal cancer. Monitoring and early intervention are crucial in managing FAP. Regular screenings and genetic testing can help in detecting and managing this condition effectively.

Classic FAP: This type of familial adenomatous polyposis is characterized by the development of hundreds to thousands of precancerous polyps in the colon and rectum, typically starting in the teenage years.
Attenuated FAP: Attenuated familial adenomatous polyposis is a milder form of the condition, where affected individuals develop fewer polyps (usually less than 100) and at a later age, often in their 20s or 30s.
Gardner syndrome: Gardner syndrome is a variant of FAP that not only involves intestinal polyps but also extra-intestinal manifestations such as skin cysts, osteomas (benign bone tumors), and desmoid tumors (ag

Risk Factors

Familial Adenomatous Polyposis (FAP) is a hereditary condition that increases the risk of developing colorectal cancer. Risk factors for FAP include having a family history of the disease, inheriting a specific genetic mutation, and being of Caucasian descent. Individuals with FAP typically develop hundreds to thousands of polyps in the colon, which can progress to cancer if left untreated. Early detection and management are crucial in reducing cancer risk.

Family history of familial adenomatous polyposis (FAP) increases the risk of developing the condition.
Inheriting a specific genetic mutation in the APC gene is a major risk factor for familial adenomatous polyposis.
Individuals with a personal history of polyps in the colon are at a higher risk of developing FAP.
Age can be a risk factor, as FAP often manifests in adolescents and young adults.
Having a history of certain medical conditions, such as Gardner syndrome, can also increase the risk of familial adenomatous polyposis.

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Diagnosis of Fap

Your doctor will conduct a physical exam, review your medical history, and may recommend colonoscopy and other tests to confirm the diagnosis. Early detection is crucial for effective management and treatment. If you have a family history of FAP or experience symptoms like blood in stool or abdominal pain, seek medical advice promptly.

1. Genetic testing is the primary diagnostic method for familial adenomatous polyposis (FAP), where a blood sample is analyzed to identify mutations in the APC gene.
2. Colonoscopy is used to visualize the colon and rectum to detect the presence of numerous polyps, which is a hallmark feature of FAP.
3. Endoscopy, including upper endoscopy and flexible sigmoidoscopy, may be performed to examine the upper gastrointestinal tract and the lower part of the colon for polyps in individuals suspected of having FAP.
4. Imaging studies such as CT scans, MRI scans, and ultrasound may be utilized to assess the extent of polyp growth and to screen for other potential complications of FAP.

Treatment for Fap

Treatment options for familial adenomatous polyposis (FAP) may include medications to reduce polyp formation, endoscopic procedures to remove polyps, and surgery to remove the colon. Regular screenings are essential. Genetic counseling is also recommended. Lifestyle modifications like a healthy diet and regular exercise can help manage symptoms. It's important to work closely with your healthcare team to determine the best treatment plan for you.

Surgical removal of the colon and rectum, known as a colectomy, is a common treatment option for individuals with Familial Adenomatous Polyposis (FAP) in order to prevent the development of colon cancer.
Regular monitoring and surveillance through colonoscopies can help detect and remove polyps early on, reducing the risk of cancer development in individuals with FAP.
Some individuals with FAP may benefit from chemoprevention, which involves taking certain medications to reduce the number and size of polyps in the colon.
Genetic counseling and testing can be helpful for individuals with a family history of FAP to determine their risk and make informed decisions about treatment and preventive measures.

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Frequently Asked Questions

Are there specific signs that indicate FAP?

Yes, signs of familial adenomatous polyposis (FAP) include hundreds to thousands of polyps in the colon, rectum bleeding, anemia, and abdominal pain.

How should I care for myself with FAP—what should I do and avoid?

Get regular colonoscopies, genetic counseling, and consider prophylactic surgery. Avoid smoking, excessive alcohol, and high-fat diets to reduce cancer risk.

Are there any risks associated with untreated FAP?

Yes, untreated familial adenomatous polyposis (FAP) can lead to a significantly increased risk of developing colorectal cancer at a young age.

What treatment options are available for FAP?

Treatment options for Familial Adenomatous Polyposis (FAP) include surgery to remove the colon, regular screenings, and medication to manage symptoms.