Generalized Juvenile Polyposis

Overview
Generalized juvenile polyposis, also called juvenile intestinal polyposis, causes noncancerous polyps to grow in the digestive tract. Polyps usually appear before the second decade of life, can grow throughout the digestive system and elevate gastrointestinal cancer risk.
Definition & Facts
Though the disorder appears before the age of 20, the word “juvenile” describes the nature of the polyp's tissues. There are three types of the syndrome with juvenile polyposis of infancy being the most severe form. Polyps form throughout a baby's digestive tract and can cause general wasting through protein starvation. Juvenile polyposis coli, the third type, grows polyps in the colon only. Regardless of type, polyps raise your risk for:
Stomach
It is normally inherited from one parent. However, there are instances of juvenile polyposis without a family history, indicating that the genetic mutation can be acquired. Signals from proteins tell cells when to grow, divide and die. A genetic mutation alters a protein behavior and its signals. The altered protein sends cells the wrong signals, triggering abnormal cell growth along the mucous membrane lining the digestive tract. Illnesses occuring during pregnancy can damage a baby's genes before birth, as can radiation exposure, and cause errors in DNA replication.
Diagnosis & Tests
Physicians diagnose juvenile polyposis when they see five or more polyps in the colon or rectum, when polyps appear in other parts of the digestive tract or family members have had them. A doctor seeing unexplained weight loss and fatigue in a patient may order a barium enema to reveal bleeding polyps. To rule out other disorders, they also test:
Liver – Doctors check the liver's health, when symptomatic patients complain of abdominal pressure or when discovering an abdominal mass, to rule out hepatic tumors and Gardner
After discovering the syndrome, a doctor will suggest genetic testing for other close relatives and colonoscopies for those with the genetic mutation. Physicians start monitoring at-risk children during early childhood to protect their development. Otherwise, doctors focus on managing secondary disorders and preventing complications. They may prescribe dietary supplements when they see weightloss and anemia, but there are no medications to prevent or directly treat juvenile polyposis. People over the age of 50 and those with family histories of juvenile polyps have colonscopies for polyp removal. Physicians consider prophylactic surgery when individuals are severely anemic, treatment by colonoscopy is impossible, the patient has severe gastric bleeding or their family has a strong history of the syndrome. Polyps can return after partial colon removal (subtotal colectomy). For this reason, doctors recommend total removal of the rectum and colon (complete proctocolectomy) as the first surgery for people with massive polyposis, and when endoscopy will not provide effective treatment. Individuals who have already had surgery also see their doctors for follow up endoscopies to check for new