Which are the symptoms of Familial Adenomatous Polyposis?

Familial Adenomatous Polyposis (FAP) is a rare genetic disorder characterized by the development of numerous polyps in the colon and rectum. These polyps are benign initially but have the potential to become cancerous over time if left untreated. FAP is an autosomal dominant condition, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the disorder.

Symptoms:

1. Polyps: The hallmark symptom of FAP is the presence of multiple polyps in the colon and rectum. These polyps typically start to develop during adolescence or early adulthood and can number in the hundreds or even thousands. If left untreated, these polyps have a high likelihood of progressing to colorectal cancer.

2. Rectal bleeding: As the polyps grow in size and number, they can cause bleeding from the rectum. This bleeding may be visible in the stool or as blood on toilet paper after bowel movements.

3. Abdominal pain: Some individuals with FAP may experience abdominal pain or cramping. This pain can vary in intensity and may be associated with the presence of larger polyps or complications such as polyp-induced intussusception (when one segment of the intestine telescopes into another).

4. Changes in bowel habits: FAP can lead to alterations in bowel movements, including diarrhea or constipation. These changes may be related to the presence of polyps or the development of colorectal cancer.

5. Unexplained weight loss: In advanced stages of FAP, when cancer has developed, unexplained weight loss may occur. This can be a result of the body's increased energy demands due to cancer growth or the impact of cancer on appetite and metabolism.

6. Extracolonic manifestations: FAP can also affect other parts of the body, leading to various extracolonic manifestations. These can include benign growths in the stomach (gastric polyps), small intestine (duodenal polyps), or other organs. Additionally, FAP is associated with an increased risk of certain cancers outside the colon, such as hepatoblastoma (a liver cancer primarily affecting children) and thyroid cancer.

It is important to note that the severity and specific symptoms of FAP can vary among individuals. Some individuals may have a milder form of the disorder with fewer polyps and a lower risk of cancer, while others may experience more aggressive disease progression.

If you suspect you or a family member may have FAP or are experiencing any of the symptoms mentioned, it is crucial to consult with a healthcare professional for a proper diagnosis and appropriate management.