What type of disorder is familial adenomatous polyposis?
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What type of disorder is familial adenomatous polyposis?
Familial adenomatous polyposis (FAP) is a rare inherited cancer predisposition syndrome characterized by hundreds to thousands of precancerous colorectal polyps (adenomatous polyps). If left untreated, affected individuals inevitably develop cancer of the colon and/or rectum at a relatively young age.
Why is it called Gardner syndrome?
The syndrome is named for Eldon J. Gardner (1909–1989), a geneticist who first described it in 1951.
Is FAP and Gardner’s the same?
Gardner syndrome is a form of familial adenomatous polyposis (FAP) that is characterized by multiple colorectal polyps and various types of tumors, both benign (noncancerous) and malignant (cancerous).
What percentage of patients with Chrpe have FAP?
The percentage of FAP patients with CHRPE was found to be 80.00%, whereas the percentage of at-risk patients with CHRPE was 31.12%. Despite various statistically significant findings, CHRPE alone cannot be used as a surrogate for diagnosing FAP in those with a positive family history.
How do you cure FAP?
Familial adenomatous polyposis (FAP) is a rare disease where a number of precancerous polyps develop in the large intestine, increasing chances for cancer. Preventive surgery is the standard treatment.
Can FAP skip a generation?
FAP does not skip generations. In the past, neither doctors nor scientists could predict who would be diagnosed with FAP until adenomas developed in the large intestine. However, in 1991, the gene responsible for FAP was discovered and was named the Adenomatous Polyposis Coli, or APC, gene.
Does Chrpe mean I have FAP?
Congenital hypertrophy of the retinal pigment epithelium (also called CHRPE) is an abnormality found in the retina of the eye that looks like a freckle and causes no symptoms for the patient. While CHRPE can be seen in one eye of individuals without FAP, but it is often present in both eyes in a FAP patient.
