NTHL1-related attenuated familial adenomatous polyposis (AFAP) is a rare inherited disorder that is caused by a mutation in the NTHL1 gene. People with this disorder have an increased risk of developing multiple polyps in the large intestine (colon) and rectum. These polyps can become cancerous 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.

The symptoms of NTHL1-related attenuated familial adenomatous polyposis (AFAP) vary from person to person, but may include:

- Abdominal pain
- Rectal bleeding
- Diarrhea
- Change in bowel habits
- Anemia
- Weight loss
- Fatigue
- Anal itching
- Rectal prolapse
- Rectal pain
- Abnormal stool
- Rectal mass
- Rectal discharge
- Abnormal rectal exam
- Abnormal colonoscopy
- Polyps in the colon or rectum

NTHL1-related attenuated familial adenomatous polyposis (AFAP) is caused by mutations in the NTHL1 gene. These mutations can be inherited from a parent or can occur spontaneously. The exact cause of these mutations is unknown, but they are thought to be related to environmental factors, such as diet, lifestyle, and exposure to certain chemicals.

Treatments for NTHL1-related attenuated familial adenomatous polyposis (AFAP) include:

1. Regular colonoscopies: Regular colonoscopies are recommended to monitor for the development of polyps and to remove them if they are found.

2. Surgery: Surgery may be recommended to remove polyps or to reduce the risk of developing colorectal cancer.

3. Medications: Certain medications, such as nonsteroidal anti-inflammatory drugs (NSAIDs) and aspirin, may be recommended to reduce the risk of developing polyps.

4. Dietary changes: Eating a diet low in fat and high in fiber may help reduce the risk of developing polyps.

5. Genetic counseling: Genetic counseling may be recommended to discuss the risks and benefits of genetic testing

1. Family history of attenuated familial adenomatous polyposis (AFAP)
2. Presence of NTHL1 gene mutation
3. Age (risk increases with age)
4. Gender (men are more likely to be affected than women)
5. Diet (high fat and low fiber diets may increase risk)
6. Smoking (increases risk)
7. Obesity (increases risk)
8. Certain medications (such as non-steroidal anti-inflammatory drugs)

At this time, there is no cure for NTHL1-related attenuated familial adenomatous polyposis (AFAP). However, medications can be used to help manage the symptoms and reduce the risk of developing colorectal cancer. These medications include non-steroidal anti-inflammatory drugs (NSAIDs), aspirin, and proton pump inhibitors (PPIs). Additionally, regular colonoscopies and other screening tests are recommended to monitor for the development of colorectal cancer.