Juvenile polyposis syndrome

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Can you have a colon polyp and not have Juvenile polyposis syndrome ?

Not all colon polyps are a sign of juvenile polyposis syndrome or any related genetic syndrome. In fact, many individuals in the general population can develop one or two colon polyps of different types over the course of their lives that are unrelated to a broader genetic predisposition to gastrointestinal (GI) polyps. Most often, polyps develop by chance or due to unknown reasons. It is rare for an individual to have an increased risk to develop polyps due to a genetic condition. However, when someone has developed multiple GI polyps or polyp-like growths at a young age, it is first important to know what type they are, where they are growing, and what other medical issues they are experiencing. After those assessments a better understanding of possible underlying genetic causes can be determined.

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What is a hamartomatous polyp?

What is the life expectancy with juvenile polyposis syndrome?

What symptoms should I contact my healthcare provider about with juvenile polyposis syndrome (JPS)?

What are the pregnancy issues for women with juvenile polyposis syndrome

Can I take medications to reduce my polyp risks with Juvenile Polyposis Syndrome?

How are Myhre syndrome and Juvenile Polyposis Syndrome related?

Does Juvenile Polyposis Syndrome only affect children?

Can you do preimplantation genetic diagnosis (PGD) for juvenile polyposis syndrome?

When should I be tested to figure out if my future children are at risk of developing juvenile polyposis syndrome?

Do I have to get a complete colectomy if I am diagnosed with juvenile polyposis syndrome?

What is a hamartomatous polyp?

The lining of the intestines is normally smooth like the inside lining of the mouth. An outgrowth of tissue from the lining of the gastrointestinal tract (GI) is referred to as an polyp. Based on what they look like under the microscope, polyps are divided into two main types: adenomatous polyps (which can be cancerous and are seen mostly in adults) and hamartomatous polyps (which are usually noncancerous or benign and are seen most often in children). Juvenile polyps are classified as a type of benign hamartomatous polyp.

References
What is the life expectancy with juvenile polyposis syndrome?

Juvenile Polyposis Syndrome (JPS) itself is not considered a life-limiting diagnosis. However, the impact of JPS on life expectancy varies depending on the medical issues and how severe they are in a specific person with JPS. In general, people with mild JPS and minimal health issues can lead normal, active lives without major restrictions. People living with JPS who have more health problems related to their polyps, hereditary hemorrhagic telangiectasia (HHT), or are diagnosed with cancer will need more physician visits and treatments, but the best outcome occurs if medical issues and complications are treated early. Critical to having the best quality and length of life is working closely with healthcare providers to develop a detailed monitoring and treatment plan so that health issues or malignancies are identified and treated early. People who have JPS have a 10 percent to 50 percent risk of developing cancer in the GI tract, which makes screening and prompt removal of polyps very important.

References
What symptoms should I contact my healthcare provider about with juvenile polyposis syndrome (JPS)?

It is important for individuals with juvenile polyposis syndrome (JPS) to keep in close contact with a doctor (or other healthcare provider) that is prepared to evaluate symptoms such as severe abdominal pain, blood in the stool, or pass a polyp in the poop and to develop a monitoring and treatment plan. The healthcare provider should be also be aware of any family history you have related to JPS, polyps, and/or cancer.

References
What are the pregnancy issues for women with juvenile polyposis syndrome

Pregnant women living with juvenile polyposis syndrome can and do have healthy pregnancies. Having said that women should work with the doctors prior to becoming pregnancy to develop an individualized pregnancy plan. This is particularly important for women with JPS and Hereditary Hemorrhagic Telangiectasia (HHT). For example women with untreated pulmonary arteriovenous malformations (AVM) are at higher risk for lung hemorrhage and cerebral complications of air embolism. Women with treated pulmonary AVMs appear to be at no higher risk during pregnancy than those without pulmonary AVMs.

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/)
Can I take medications to reduce my polyp risks with Juvenile Polyposis Syndrome?

No known chemoprevention options are effective for juvenile polyps at this time.

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/)
How are Myhre syndrome and Juvenile Polyposis Syndrome related?

Myhre syndrome is a connective tissue disorder with multisystem involvement including cardiovascular disease, respiratory disease, gastrointestinal disease, thickened skin, proliferative fibrosis and scarring, cognitive impairment, facial dysmorphism, and short stature. Myhre syndrome is also cause by a mutation in the same SMAD4 gene associated with Juvenile Polyposis 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/)
Does Juvenile Polyposis Syndrome only affect children?

In the case of juvenile polyposis syndrome, juvenile polyps refer to the type of polyp, not the person that is affected. Most juvenile polyps are not cancerous, but there is a chance that if they are left in the colon and not removed, they will become cancerous later on.

References
  • Accessed on November 14, 2019: Genetics Home Reference, Juvenile Polyposis Syndrome (https://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome)
Can you do preimplantation genetic diagnosis (PGD) for juvenile polyposis syndrome?

Preimplantation genetic diagnosis (PGD) is available for juvenile polyposis syndrome. PGD is a procedure used to help identify genetic conditions within embryos before they are placed into a woman's uterus. Once the SMAD4 or BMPR1A pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis are possible.

It is important to have genetic counseling from a qualified healthcare provider to aid in understanding PGD. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website.

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/)
When should I be tested to figure out if my future children are at risk of developing juvenile polyposis syndrome?

The optimal time for determination of genetic risk and discussion of the availability of prenatal testing is before pregnancy. It is important to have genetic counseling from a qualified healthcare provider to aid in understanding recurrence risks for juvenile polyposis syndrome. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website.

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/)
Do I have to get a complete colectomy if I am diagnosed with juvenile polyposis syndrome?

When an individual is diagnosed with juvenile polyposis syndrome, their doctor will do a complete imaging of the gastrointestinal tract and discuss next steps for a care plan. This care plan may include a colectomy. Some doctors prefer subtotal colectomy with ileorectal anastomosis, whereas others prefer proctocolectomy with an ileoanal pouch. The number of colonic or rectal polyps does not appear to correlate with the need for proctectomy. To discuss further, please consult with your doctor.

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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