Juvenile polyposis syndrome

Treatment

What is recommended after a diagnosis of juvenile polyposis syndrome?

After a diagnosis of juvenile polyposis syndrome (JPS) it is important to have a series of tests and evaluations that help the doctor understand existing health issues and other medical issues requiring monitoring or treatment. This is also the time for patients and family members living with JPS to learn more about JPS to help them understand next steps. These may include:

  • A review of medical history of gastrointestinal issues such as: abdominal pain, rectal bleeding, constipation, diarrhea, or stool changes
  • Lab work including a complete blood count (CBC) to look for anemia
  • Assessments including a colonoscopy and upper endoscopy
  • Consultation with a clinical geneticist and/or genetic counselor to discuss family implications and genetic testing options
  • Evaluation for complications related to hereditary hemorrhagic telangiectasia (HHT) for individuals with an SMAD4 gene change (pathogenic variant).
  • Connect with others living with JPS via support and advocacy groups like Peutz-Jeghers Syndrome & Juvenile Polyposis Syndrome Online Support Group
References
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Is there a treatment for juvenile polyposis syndrome?

What screening is recommended for juvenile polyposis syndrome?

Is there a treatment for juvenile polyposis syndrome?

There is no treatment that can cure juvenile polyposis syndrome (JPS). However, there are options available to reduce the risk of medical symptoms or developing gastrointestinal tract cancer. These options include:

  • Screening colonoscopy beginning at age 12-15 years of age in asymptomatic individuals is recommended to be repeated annually in those with polyps and every 2-3 years in those without.
  • Screening upper endoscopy (including the duodenum) and capsule endoscopy beginning at age 15 years of age in asymptomatic individuals is recommended to be repeated every 1-2 years.
  • Screening for pulmonary or cerebral arteriovenous malformation (AVM) is recommended in those with mutation in SMAD4.
  • For those with SMAD4 mutations, screening for Hereditary Hemorrhagic Telangiectasia (HHT) should include chest radiography or transthoracic contrast cardiac echocardiography with agitated saline and head MRI. As AVMs may develop with increasing age, repeat screening after negative results should be considered after puberty, preceding planned pregnancy, after pregnancy, and every 5-10 years.
  • For those who have had juvenile polyps diagnosed in childhood, annual colonoscopy until all polyps have been removed, and then every 2-3 years, thereafter may be considered. In addition, earlier baseline screening of the upper GI tract in symptomatic children, may be recommended to assess the presence of polyps there. In the absence of upper GI polyps, subsequent upper GI endoscopy can be performed at age 15.

This monitoring schedule is important as early endoscopic removal of polyps (polypectomy) may reduce risk for cancer, bleeding, and other GI complications. In some individuals with many polyps, it may be recommended that all or part of the colon or stomach be surgically removed to resolve health issues and/or reduce cancer risk.

References
  • Achatz, M., et al. (2017). Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood. Clinical Cancer Research. doi: 10.1158/1078-0432.CCR-17-0790
  • Larsen Haidle J, Howe JR. Juvenile Polyposis Syndrome. 2003 May 13 [Updated 2017 Mar 9]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1469/
What screening is recommended for juvenile polyposis syndrome?

Surveillance recommendations for patients with JPS may include the following:

  • Screening colonoscopy beginning at age 12-15 years of age in asymptomatic individuals is recommended to be repeated annually in those with polyps and every 2-3 years in those without.
  • Screening upper endoscopy (including the duodenum) and capsule endoscopy beginning at age 15 years of age in asymptomatic individuals is recommended to be repeated every 1-2 years.
  • Screening for pulmonary or cerebral arteriovenous malformation (AVM) is recommended in those with mutation in SMAD4.
  • For those with SMAD4 mutations, screening for Hereditary Hemorrhagic Telangiectasia (HHT) should include chest radiography or transthoracic contrast cardiac echocardiography with agitated saline and head MRI. As AVMs may develop with increasing age, repeat screening after negative results should be considered after puberty, preceding planned pregnancy, after pregnancy, and every 5-10 years.
  • For those who have had juvenile polyps diagnosed in childhood, annual colonoscopy until all polyps have been removed, and then every 2-3 years, thereafter may be considered. In addition, earlier baseline screening of the upper GI tract in symptomatic children, may be recommended to assess the presence of polyps there. In the absence of upper GI polyps, subsequent upper GI endoscopy can be performed at age 15.
References
  • The National Comprehensive Cancer Network
  • Achatz, M., et al. (2017). Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood. Clinical Cancer Research. doi: 10.1158/1078-0432.CCR-17-0790
  • Larsen Haidle J, Howe JR. Juvenile Polyposis Syndrome. 2003 May 13 [Updated 2017 Mar 9]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1469/

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