Common questions

How do you know if you have familial adenomatous polyposis?

How do you know if you have familial adenomatous polyposis?

Familial Adenomatous Polyposis Symptoms

  1. Bloody stool.
  2. Unexplained diarrhea.
  3. A long period of constipation.
  4. Abdominal cramps.
  5. Decrease in size or caliber of stool.
  6. Gas pain, bloating, fullness.
  7. Unexplained weight loss.
  8. Lethargy and vomiting.

What are the clinical and pathological features of familial adenomatous polyposis?

Non-cancer features of FAP/AFAP include congenital hypertrophy of the retinal pigment epithelium (CHRPE), desmoid tumors, epidermoid cysts, osteomas, dental abnormalities, gastric fundic gland polyps, and gastric and duodenal adenomas.

What is life expectancy with FAP?

Patients with untreated FAP have a median life expectancy of 42 years. Life expectancy is extended greatly in those treated with colectomy. Upper gastrointestinal cancers and desmoid tumors are the most common causes of death in patients who have undergone colectomy.

Who discovered familial adenomatous polyposis?

Dalton [18] in 1893 described a woman aged 28 years with a congenital predisposition to growth of multiple adenomas of the large bowel. In 1895, Hauser [19] noted gastroduodenal polyps in a 33-year-old patient with multiple colorectal polyps, and histological examination showed no difference from the colorectal polyps.

How does familial adenomatous polyposis affect the body?

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. FAP causes extra tissue (polyps) to form in your large intestine (colon) and rectum.

What is the treatment for attenuated adenomatous polyposis?

Treatment Treatment. Attenuated familial adenomatous polyposis (AFAP) is generally managed with regular screening to detect if and when polyps develop. Screening by colonoscopy has been recommended for affected people starting at age 20 to 25 years.

How are APC mutations related to adenomatous polyposis?

These mutations affect the ability of the cell to maintain normal growth and function. Cell overgrowth resulting from mutations in the APC gene leads to the colon polyps seen in familial adenomatous polyposis.

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