Autosomal recessive adenomatous polyposis coli (AR-APC) is a rare form of adenomatous polyposis coli (APC) that is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the mutated APC gene, one from each parent, in order to develop the disorder.
AR-APC is caused by mutations in the MUTYH gene, which provides instructions for producing a protein that helps repair damage to DNA. When the MUTYH gene is mutated, it can no longer repair DNA properly, leading to the development of adenomatous polyps in the colon and rectum.
Symptoms of AR-APC are similar to those of APC, including rectal bleeding, changes in bowel habits, abdominal pain, and fatigue. However, individuals with AR-APC tend to have fewer polyps than those with APC, and the polyps are often smaller and less likely to become cancerous.
Diagnosis of AR-APC involves a physical exam, imaging studies such as a colonoscopy or CT scan, and genetic testing to confirm the presence of mutations in the MUTYH gene. Treatment options for AR-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.
AR-APC is a rare disorder, and individuals who carry mutations in both copies of the MUTYH gene are at increased risk of having children with the disorder. Genetic counseling may be recommended for individuals with a family history of AR-APC or who are carriers of mutations in the MUTYH gene.
In summary, autosomal recessive adenomatous polyposis coli (AR-APC) is a rare form of APC that is inherited in an autosomal recessive pattern. AR-APC is caused by mutations in the MUTYH gene, which provides instructions for producing a protein that helps repair damage to DNA. Treatment options for AR-APC may include regular colonoscopies and surgical removal of the colon and rectum in severe cases. Genetic counseling may be recommended for individuals with a family history of AR-APC or who are carriers of mutations in the MUTYH gene.
