Adenomatous polyposis coli (APC) is a rare genetic disorder that causes the development of numerous adenomatous polyps in the colon and rectum. These polyps are abnormal growths that can become cancerous over time, leading to an increased risk of colorectal cancer.
APC is caused by a mutation in the APC gene, which normally functions as a tumor suppressor gene that helps regulate cell growth and division. When the APC gene is mutated, it can no longer regulate cell growth and division properly, leading to the development of adenomatous polyps in the colon and rectum.
APC can be inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated APC gene from a parent to develop the disorder. If a parent has APC, each of their children has a 50% chance of inheriting the mutation.
Symptoms of APC include rectal bleeding, changes in bowel habits, abdominal pain, and fatigue. However, many individuals with APC do not have any symptoms until later stages of the disorder.
Diagnosis of APC typically involves a physical exam, imaging studies such as a colonoscopy or CT scan, and genetic testing to confirm the presence of the APC gene mutation. Treatment options for APC may include regular colonoscopies to monitor and remove any polyps that develop, as well as surgical removal of the colon and rectum in severe cases.
In summary, Adenomatous polyposis coli (APC) is a rare genetic disorder that causes the development of numerous adenomatous polyps in the colon and rectum, leading to an increased risk of colorectal cancer. APC is caused by a mutation in the APC gene, which normally functions as a tumor suppressor gene. Treatment options for APC may include regular colonoscopies and surgical removal of the colon and rectum in severe cases. Genetic testing may be necessary to diagnose APC, and genetic counseling may be recommended for individuals with a family history of the disorder.
