Familial adenomatous polyposis

Symptoms
Causes
Risk factors
Prevention

Overview

Familial adenomatous polyposis (FAP) is a rare inherited condition resulting from a gene defect in the adenomatous polyposis coli (APC) gene. For most people, the gene is inherited from a parent. However, the genetic mutation occurs spontaneously for 25-30% of individuals.
FAP leads to extra tissue (polyps) in the colon and rectum. These polyps can also appear in the upper gastrointestinal tract, particularly in the duodenum. If left untreated, the colon and rectum polyps will likely become cancerous in one’s 40s.
Most people with FAP eventually require surgery to remove the large intestine to prevent cancer. Although the duodenum polyps can also develop cancer, regular monitoring and removal of the polyps usually manage them.
Attenuated familial adenomatous polyposis (AFAP) is a milder form of FAP. People with AFAP usually have fewer colon polyps (an average of 30) and develop cancer later in life.
Symptoms

The primary indication of FAP is the growth of hundreds or even thousands of polyps in your colon and rectum, which typically begins in the mid-teens. These polyps are almost certain to transform into colon or rectal cancer by the time you reach your 40s.
When to see a doctor

Familial adenomatous polyposis (FAP) is a rare genetic disorder that affects the digestive system. It causes the formation of multiple polyps in the large intestine, which can eventually become cancerous. Early detection and treatment are crucial, particularly for those with a family history of FAP, who should undergo genetic testing and regular colonoscopies to monitor for polyps. Symptoms of FAP may include abdominal pain, rectal bleeding, and changes in bowel habits. If you experience any of these symptoms or have a family history of FAP, it is recommended that you consult with a doctor for further evaluation and management of this condition.
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Causes

Familial adenomatous polyposis results from a gene defect typically passed down from a parent. However, in some cases, individuals acquire the abnormal gene that leads to the condition.
Risk factors

Your risk of developing the condition is higher if any of your family members, including parents, siblings or children, have familial adenomatous polyposis.
Prevention

It is impossible to prevent FAP as it is an inherited genetic condition. In case you or your child is at risk of FAP due to a family member with the disease, genetic testing and counselling are necessary. If you have FAP, regular screening and surgery may be required to prevent the onset of colorectal cancer or other related complications.
*Please note that the information provided in the article is for reference purposes only. It is essential to consult a doctor before applying any of the suggestions mentioned.