Familial adenomatous polyposis due to 5q22.2 microdeletion is a rare genetic disorder caused by a deletion of a small piece of genetic material on the long arm of chromosome 5. This deletion results in the loss of a gene called APC, which is responsible for controlling the growth of cells in the lining of the colon. People with this disorder are at an increased risk of developing multiple polyps in the colon, which can lead to colorectal cancer if left untreated.

The most common symptoms of Familial adenomatous polyposis due to 5q22.2 microdeletion are:

- Abdominal pain
- Rectal bleeding
- Diarrhea
- Weight loss
- Anemia
- Fatigue
- Rectal prolapse
- Intestinal obstruction
- Abnormal growths in the colon
- Increased risk of colorectal cancer

1. Mutations in the APC gene: Familial adenomatous polyposis (FAP) is caused by mutations in the APC gene, located on chromosome 5q22.2. The APC gene provides instructions for making a protein that helps regulate cell growth and division. Mutations in this gene lead to the production of an abnormal APC protein, which causes cells to divide uncontrollably and form polyps in the lining of the colon and rectum.

2. Inheritance: FAP is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of FAP are caused by new mutations in the APC gene and occur in people with no history of the disorder in their family.

3. Microdeletion: A micro

1. Surgery: Surgery is the primary treatment for familial adenomatous polyposis due to 5q22.2 microdeletion. This includes removal of the entire colon and rectum (colectomy) and creation of a permanent ileostomy.

2. Chemoprevention: Chemoprevention is the use of medications to reduce the risk of cancer. In the case of familial adenomatous polyposis due to 5q22.2 microdeletion, chemoprevention may include the use of nonsteroidal anti-inflammatory drugs (NSAIDs) such as aspirin and ibuprofen.

3. Genetic counseling: Genetic counseling is recommended for individuals with familial adenomatous polyposis due to 5q22.2 microdeletion. This counseling can help

1. Family history of Familial Adenomatous Polyposis (FAP)
2. Presence of a 5q22.2 microdeletion
3. Personal history of colorectal polyps
4. Personal history of colorectal cancer
5. Personal history of other cancers associated with FAP
6. Personal history of inflammatory bowel disease
7. Personal history of desmoid tumors
8. Personal history of thyroid cancer
9. Personal history of congenital hypertrophy of the retinal pigment epithelium (CHRPE)
10. Personal history of congenital hypertrophy of the retinal pigment epithelium (CHRPE) with multiple colonic polyps

At this time, there is no cure for Familial Adenomatous Polyposis (FAP) due to 5q22.2 microdeletion. However, there are medications that can help manage the symptoms and reduce the risk of complications. These medications include non-steroidal anti-inflammatory drugs (NSAIDs), proton pump inhibitors (PPIs), and anticoagulants. Additionally, regular colonoscopies and other screening tests can help detect and remove polyps before they become cancerous.