About AXIN2-related attenuated familial adenomatous polyposis
What is AXIN2-related attenuated familial adenomatous polyposis?
AXIN2-related attenuated familial adenomatous polyposis (AFAP) is a rare inherited disorder that is caused by mutations in the AXIN2 gene. People with this condition have an increased risk of developing multiple polyps in the colon and rectum, which can lead to colorectal cancer if left untreated. Symptoms of AFAP can include abdominal pain, rectal bleeding, and changes in bowel habits. Treatment typically involves regular colonoscopies to monitor for polyps and removal of any polyps that are found.
What are the symptoms of AXIN2-related attenuated familial adenomatous polyposis?
The symptoms of AXIN2-related attenuated familial adenomatous polyposis (AFAP) vary depending on the individual, but may include:
- Abdominal pain
- Rectal bleeding
- Diarrhea
- Weight loss
- Anemia
- Fatigue
- Rectal prolapse
- Anal fissures
- Rectal strictures
- Intestinal obstruction
- Abnormal liver function tests
- Abnormal blood clotting tests
- Abnormal calcium levels
- Abnormal cholesterol levels
- Abnormal blood sugar levels
- Abnormal thyroid function tests
- Abnormal kidney function tests
- Abnormal growth hormone levels
- Abnormal adrenal hormone levels
- Abnormal pituitary hormone levels
- Abnormal reproductive hormone levels
- Abnormal immune system function tests
What are the causes of AXIN2-related attenuated familial adenomatous polyposis?
AXIN2-related attenuated familial adenomatous polyposis (AFAP) is caused by mutations in the AXIN2 gene. These mutations can be inherited from a parent or can occur spontaneously. The AXIN2 gene is responsible for producing a protein that helps regulate the Wnt signaling pathway, which is involved in cell growth and development. Mutations in the AXIN2 gene can lead to an overactive Wnt signaling pathway, which can cause the formation of multiple polyps in the colon and rectum.
What are the treatments for AXIN2-related attenuated familial adenomatous polyposis?
Treatment for AXIN2-related attenuated familial adenomatous polyposis (AFAP) typically involves a combination of medical and surgical interventions. Medical interventions may include regular colonoscopies to monitor for polyps, as well as medications to reduce the risk of polyp formation. Surgical interventions may include the removal of polyps or the removal of the entire colon (colectomy). In some cases, genetic counseling may be recommended to help individuals and families understand their risk of developing AFAP and other related conditions.
What are the risk factors for AXIN2-related attenuated familial adenomatous polyposis?
1. Family history of attenuated familial adenomatous polyposis (AFAP)
2. Mutations in the AXIN2 gene
3. Age (risk increases with age)
4. Gender (men are more likely to be affected than women)
5. Ethnicity (people of African descent are more likely to be affected than other ethnicities)
6. Smoking
7. Obesity
8. High-fat diet
9. Low levels of physical activity
10. Exposure to certain environmental toxins
Is there a cure/medications for AXIN2-related attenuated familial adenomatous polyposis?
At this time, there is no cure for AXIN2-related attenuated familial adenomatous polyposis (AFAP). However, medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) and aspirin may be used to reduce the risk of developing colorectal cancer. Additionally, regular colonoscopies and other screening tests may be recommended to monitor for the development of polyps.