Among the symptoms of familial adenomatous polyposis (FAP) is the development of numerous polyps in the colon and rectum, which can lead to colorectal cancer. FAP causes, symptoms, diagnosis, treatment, and prevention will be discussed in this blog post.
Causes
It is caused by a mutation in the APC gene, which controls cell growth. As a result, people who have a family history of FAP are more likely to develop the condition. This genetic mutation is inherited in an autosomal dominant pattern, which means a single copy of the altered gene can cause the condition.
Symptoms
The most common symptom of FAP is the development of hundreds to thousands of polyps in the colon and rectum, which are initially benign but can turn cancerous if left untreated.
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The presence of blood or mucus in the stool.
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Changes in bowel habits, such as diarrhea or constipation.
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Pain or discomfort in the abdomen.
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Unintentional weight loss.
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Chronic blood loss from polyps causes fatigue and weakness.
Diagnosis
Diagnosing FAP typically involves:
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Identifying any relatives with FAP or colorectal cancer from the patient's family history.
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A colonoscopy involves the use of a flexible tube with a camera to examine the colon and rectum for polyps.
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APC gene mutation testing is performed to confirm the diagnosis and assess the risk for family members.
Treatment
FAP is treated by managing polyps and reducing the risk of colorectal cancer:
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Surveillance: Regular colonoscopies to monitor and remove polyps before they become cancerous.
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The colon may need to be surgically removed when there are numerous polyps or if cancer is detected.
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Nonsteroidal anti-inflammatory drugs (NSAIDs) may reduce the size and number of polyps, but they are not a substitute for regular screenings and surgery.
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Providing genetic counseling to patients and their families about the genetic nature of FAP and the risk to relatives.
Prevention
Prevention strategies for FAP involve early detection and proactive management:
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Testing at-risk family members for the APC gene mutation.
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Those with a family history of FAP should begin colonoscopy screenings at an early age (often in their teens).
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Informing patients and their families about the signs and symptoms of FAP and the importance of regular medical examinations.
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Maintaining a healthy diet, avoiding smoking, and limiting alcohol consumption can support overall health.
In summary, familial adenomatous polyposis is a genetic disorder that significantly increases the risk of colorectal cancer due to the development of numerous polyps in the colon and rectum. A timely diagnosis can prevent cancer and help manage it effectively. Talk to a healthcare professional about appropriate screening and management strategies if you or a family member has a history of FAP.
