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About Juvenile Polyposis Syndrome

Juvenile polyposis syndrome (JPS) is a genetic condition that is diagnosed when a pathogenic variant in either the SMAD4 or BMPR1A gene affects the normal growth and function of a cell. Individuals with JPS are at an increased risk for developing juvenile-polyposis-type hamartomatous polyps, also known as juvenile polyps (which refers to the type of polyp rather than the age at which the polyp develops), in the stomach, small intestine, colon, and rectum. Most juvenile polyps are benign (noncancerous); however, cancer can develop. If polyps are left untreated, they may cause bleeding in the digestive tract and lead to anemia. Individuals with a pathogenic variant in the SMAD4 gene are also at risk for developing hereditary hemorrhagic telangiectasia (HHT), a condition in which abnormal connections are formed between blood vessels in many organs.

Cancer risks associated with juvenile polyposis syndrome include:

Cancer Screening and Risk Reduction for Juvenile Polyposis Syndrome

Understanding your risk for developing cancer as well as the options available to you for prevention, early detection, and treatment can help improve your quality of life. Clinical management guidelines for surveillance and risk-reduction strategies differ from person to person and should involve a shared decision between you and your healthcare provider who takes into account risk factors specific to you.

Recommendations may include:

  • Screening for vascular lesions associated with HHT (SMAD4 gene only; beginning within the first 6 months of life)
  • Colonoscopy and upper endoscopy with removal of polyps (beginning in mid-teens or at onset of symptoms, whichever occurs earlier)*
  • Monitoring for rectal bleeding, anemia, abdominal pain, constipation, and diarrhea (symptoms should prompt further evaluation)

*If polyps are found, annual screening is recommended. If no polyps are detected, screening every 2-3 years is recommended. If many polyps are found, surgery to remove part of or most of the colon or stomach may be recommended.

Treating Juvenile Polyposis Syndrome at UT Health Austin

Our genetic counselors help patients understand the benefits, limitations, and risks associated with undergoing genetic testing as well as how genetic testing affects healthcare management so that they can make informed decisions about their health. When discussing test results, our genetic counselors will work with you to develop a cancer screening plan specific to your needs.

Through our Multidisciplinary Case Conferences, we collaborate with our colleagues at The University of Texas at Austin and the Dell Medical School to stay informed of the latest research, diagnostic, and surveillance techniques, and we partner with existing providers in the Austin area to ensure we can successfully connect you with services recommended as part of your personalized cancer screening plan. We also provide you with community resources and help coordinate high-risk surveillance so that you have support every step of the way.

Care Team Approach

At UT Health Austin, we take a multidisciplinary approach to your care. This means you will benefit from the expertise of multiple specialists across a variety of disciplines caring for you in one place to avoid having to schedule multiple appointments with providers at locations all over the city. The Hereditary Cancer Screening and Risk Reduction care team includes clinical genetic counselors, medical oncologists, surgical oncologists, nurses, advanced practice providers, dietitians, social workers, and more as well as other members of the CaLM Care Team, who work together to help you get back to the things in your life that matter most to you. We also work alongside specialists across Cancer Fertility Preservation, Digestive Health, Women’s Health, Primary Care, Dermatology, and more.

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Hereditary Cancer Screening and Risk Reduction

Health Transformation Building, 8th Floor
1601 Trinity Street, Bldg. A, Austin, TX 78712
1-833-UT-CARES (1-833-882-2737)
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