A Kid39s Guide to Familial Adenomatous Polyposis InSiGHT Childrensmercy Form
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People also ask
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Can you have FAP with no family history?
The gene mutation that causes FAP is a germline mutation, which means it occurs during conception, not during your lifetime. This is how it runs in families. If one of your parents has the mutation, you have a 50% chance of inheriting it. However, up to 30% of these mutations are original, not inherited.
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Can familial adenomatous polyposis be passed down?
Familial adenomatous polyposis (FAP) is a rare, inherited condition caused by a defect in the adenomatous polyposis coli (APC) gene. Most people inherit the gene from a parent. But for 25 to 30 percent of people, the genetic mutation occurs spontaneously.
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Does FAP skip generations?
Since patients with only one copy of the mutated APC gene will have symptoms, there is a 50% chance that the child of a FAP patient will be born with the mutation. For this reason, FAP can appear to skip generations.
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What is the inheritance pattern of FAP?
When familial adenomatous polyposis results from mutations in the APC gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
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What are the guidelines for adenomatous familial polyposis?
Familial Adenomatous Polyposis) or colonoscopy from age 10 to 15. Screening for extracolonic manifestations of FAP is essential and includes the following measures: Upper endoscopy to examine the stomach and duodenum at 20 to 25 years. Screening may start earlier if a patient undergoes colectomy before this age.
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What is the life expectancy of someone with familial adenomatous polyposis?
What is the life expectancy of someone with familial adenomatous polyposis? Without timely treatment, the median life expectancy is 42 years. But with appropriate care, you can live a normal life. Once your colon has been removed, your biggest risk is from other gastrointestinal cancers or problematic desmoid tumors.
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What is the new treatment for familial adenomatous polyposis?
In the trial, people with this hereditary condition—called familial adenomatous polyposis (FAP)—who were randomly assigned to receive the combination of erlotinib (Tarceva) and sulindac (Aflodac) had less than a third the number of polyps after 6 months of treatment than patients who received placebos.
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How accurate is genetic testing for FAP?
An upper GI endoscopy also uses a long, flexible tube but looks down into the esophagus (food tube), stomach, and small intestine. Another way to check for FAP is by genetic testing. Detection of the gene mutation is very accurate, detecting approximately 95 percent of cases and with 98 percent accuracy.
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