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Juvenile Polyposis Syndrome India

Juvenile Polyposis Syndrome India

Juvenile Polyposis Syndrome India

Juvenile Polyposis Syndrome India

Juvenile Polyposis Syndrome India

Juvenile Polyposis Syndrome India



Juvenile Polyposis Syndrome India

Juvenile Polyposis Syndrome

Overview

What is juvenile polyposis syndrome?

Juvenile polyposis syndrome (JPS) is a hereditary condition that is characterized by the presence of hamartomatous polyps in the digestive tract. Hamartomas are noncancerous masses of normal tissue that build up in the intestines or other places. These masses are called polyps if they develop inside a body structure, such as the intestines. The term juvenile polyposis refers to the type of polyp (juvenile polyp) that is found after examination of the polyp under a microscope, rather than the age at which people are diagnosed with JPS.
Polyps may frequently develop in a person with JPS by age 20. The number of polyps a person has during his or her lifetime can range from around five to more than 100. Most juvenile polyps are benign (noncancerous), but there is an increased risk of cancer of the digestive tract in families with JPS.

JPS is suspected when a person’s symptoms and history fit one of the following categories:

  • More than five juvenile polyps of the colon and/or rectum
  • Multiple juvenile polyps throughout the digestive tract (stomach, small intestine, colon, and rectum)
  • Any number of juvenile polyps and a family history of juvenile polyps


Juvenile Polyposis Syndrome India

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What causes JPS?

JPS is a genetic condition. This means that the risk for polyps and cancer can be passed from generation to generation in a family. Two genes have been linked to JPS. They are called BMPR1A and SMAD4. A mutation (alteration) in either the BMPR1A gene or the SMAD4 gene makes a person more likely to develop juvenile polyps and cancer of the digestive tract over his or her lifetime. Not all families that have JPS will have mutations in BMPR1A or SMAD4. Other genes are being studied regarding their link to JPS.

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How common is JPS?

It is estimated that between one in 16,000 and one in 100,000 people has JPS.

How is JPS diagnosed?

A diagnosis of JPS is assumed if a person’s symptoms and history fits one of the three categories listed above. People who have JPS can have a blood test to look for a mutation in the BMPR1A gene or the SMAD4 gene. If a specific gene mutation is found, other family members will be diagnosed with JPS if they are tested and have the same gene mutation.

It appears likely that there are other genes associated with JPS that have not yet been identified, so a blood test result that comes back as “negative” (meaning a gene mutation cannot be found) does not mean that a person does not have JPS. Therefore, meeting with a health professional who specializes in genetics, such as a genetic counselor or medical geneticist, is recommended for people who have a family history or symptoms that suggests JPS.
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What are the estimated cancer risks associated with JPS?

People with JPS are considered to be at increased risk for colorectal, stomach, small intestine, and pancreatic cancers. The overall estimated cancer risk associated with JPS is 9% to 50%, but the risks for each specific type of cancer have not been determined.

What are the screening options for JPS?

It is important to discuss with your doctor the following screening options, as each individual is different:

  • Any signs of rectal bleeding, anemia, abdominal pain, constipation, diarrhea, or other changes in the stool should be brought to the attention of a doctor and evaluated.
  • A complete blood count (CBC, a blood test), colonoscopy, and upper endoscopy should be done at age 15 (or earlier if there are symptoms);
  • if tests are normal they should be repeated every three years.
  • If polyps are found, they should be removed, and screening should be done every year.
  • Individuals who develop large numbers of polyps may need to have surgery to remove part of the colon or stomach.

Screening options may change over time as new technologies are developed and more is learned about JPS. It is important to talk with your doctor about appropriate screening tests.

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Juvenile Polyposis Syndrome India

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Juvenile Polyposis Syndrome India

Juvenile Polyposis Syndrome India

Juvenile Polyposis Syndrome India

Juvenile Polyposis Syndrome India

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