Juvenile polyposis syndrome

Symptoms

What red flags suggest juvenile polyposis syndrome?

Health issues or "red flags" that suggest that someone may be at increased risk for juvenile polyposis syndrome (JPS) include:

  1. A polyp that protrudes from the rectum
  2. Polyps in the stool
  3. Bleeding from the rectum
  4. Blood in stool
  5. Anemia
  6. Low red blood cell count
  7. A family member with JPS
References
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Are there cancer risks associated with juvenile polyposis syndrome?

Can other health issues be seen in patients with juvenile polyposis syndrome?

If I have juvenile polyposis syndrome will I always have symptoms?

What other diseases look like juvenile polyposis syndrome?

Tell me about the different types of juvenile polyposis syndrome.

What should I be looking for in juvenile polyposis syndrome in my body?

Are any symptoms of juvenile polyposis syndrome "odd" or "unique"?

Are there cancer risks associated with juvenile polyposis syndrome?

Patients with juvenile polyposis syndrome (JPS) are at increased risk for the development of cancer of the gastrointestinal tract (GI), although it is very rare in childhood. The lifetime risk of GI cancers in people with JPS ranges from 9% to 50%. Colon cancer is the most common type of GI cancer in JPS, but pancreatic, upper GI, and stomach cancers have also been reported. The risk for cancer can be reduced by monitoring for polyps with procedures such as colonoscopies and endoscopies with the removal of polyps (polypectomy).

References
  • 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/
Can other health issues be seen in patients with juvenile polyposis syndrome?

Approximately 20% of patients with juvenile polyposis syndrome (JPS) who have a mutation (pathogenic variant) in SMAD4 also have hereditary hemorrhagic telangiectasia (HHT) syndrome. HHT is a genetic condition that is characterized by the development of multiple abnormalities in the blood vessels leading to abnormal tangles of blood vessels connecting arteries and veins that disrupts normal blood flow and oxygen circulation (arteriovenous malformations) in the skin, mucous membranes, liver, lungs and brain. These can be large and may lead to other health issues such as red markings on the skin (telangiectasias), frequent nose bleeds, lung issues, or strokes. Accordingly, individuals with JPS/HHT syndrome will often need to follow both the JPS and HHT surveillance guidelines.

References
If I have juvenile polyposis syndrome will I always have symptoms?

In genetics, penetrance is a word that is used to describe the percentage chance that symptoms will show up. If you have been diagnosed with juvenile polyposis syndrome, there is 97% chance that you will develop juvenile polyps. Although this chance is very high, it does not mean that you will definitely develop these polyps. Therefore, if you have juvenile polyposis syndrome, symptoms may not always show up.

References
  • Accessed on November 14, 2019: Joy Larsen Haidle, MS, CGC and James R Howe, MD; GeneReviews, Juvenile Polyposis Syndrome (https://www.ncbi.nlm.nih.gov/books/NBK1469/)
What other diseases look like juvenile polyposis syndrome?

Some differential diagnoses of juvenile polyposis syndrome are:

  • PTEN hamartoma tumor syndrome
  • Nevoid basal cell carcinoma syndrome
  • Peutz-Jeghers syndrome
  • Hereditary mixed polyposis syndrome
  • Familial adenomatous polyposis
  • MUTYH-associated polyposis
  • Lynch syndrome
References
  • Accessed on November 14, 2019: Joy Larsen Haidle, MS, CGC and James R Howe, MD; GeneReviews, Juvenile Polyposis Syndrome (https://www.ncbi.nlm.nih.gov/books/NBK1469/)
Tell me about the different types of juvenile polyposis syndrome.

For the most part, there is only one type of juvenile polyposis syndrome. However, it can be caused by different things, such as mutations in either the SMAD4 gene or BMPR1A gene. The physical manifestations of juvenile polyposis syndrome are typically around the same, regardless of the cause.

References
  • Accessed on November 14, 2019: Joy Larsen Haidle, MS, CGC and James R Howe, MD; GeneReviews, Juvenile Polyposis Syndrome (https://www.ncbi.nlm.nih.gov/books/NBK1469/)
What should I be looking for in juvenile polyposis syndrome in my body?

If you have any of the following symptoms, you should discuss them with your doctor:

  • A polyp that protrudes from the rectum
  • Polyps in the stool
  • Bleeding from the rectum
  • Blood in stool
  • Anemia
  • Low red blood cell count
  • A family member with JPS
References
Are any symptoms of juvenile polyposis syndrome "odd" or "unique"?

Often the earliest signs and symptoms of JPS are the development of polyps. These polyps cannot be seen or felt but may cause GI bleeding which is seen as blood in the stool when a person goes to the bathroom. There may also be diarrhea or constipation and even anemia or fatigue depending on the severity of bleeding or diarrhea. Polyps can be seen by endoscopic examination and there are usually multiple polyps with a distinct presentation known as "juvenile" or "hamartomatous" polyps.

References
  • Accessed on November 14, 2019: Joy Larsen Haidle, MS, CGC and James R Howe, MD; GeneReviews, Juvenile Polyposis Syndrome (https://www.ncbi.nlm.nih.gov/books/NBK1469/)

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