- Hereditary Breast and Ovarian Cancer syndrome (HBOC)
- Lynch syndrome/Hereditary Non-Polyposis Colorectal Cancer (HNPCC)
- Familial Adenomatous Polyposis (FAP)/Attenuated Familial Adenomatous Polyposis (AFAP)
- MUTYH-associated Polyposis syndrome (MAP)
- MUTYH-associated Colon Cancer Risk
- Melanoma Cancer Syndrome (MCS)
- Li-Fraumeni Syndrome (LFS)
- PTEN Hamartoma Tumor syndrome (PHTS)
- Peutz-Jeghers Syndrome
- Hereditary Diffuse Gastric Cancer (HDGC) Syndrome
- Juvenile Polyposis Syndrome (JPS)
- Juvenile Polyposis Syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT)
- PALB2-associated Cancer Risk
- CHEK2-associated Cancer Risk
- ATM-associated Cancer Risk
- NBN-associated Cancer Risk
- BARD1-associated Cancer Risk
- BRIP1-associated Cancer Risk
- RAD51C-associated Cancer Risk
- RAD51D-associated Cancer Risk
- Polymerase Proofreading-associated Syndrome (PPAS)
- Hereditary Mixed Polyposis Syndrome (HMPS)
Juvenile Polyposis Syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT) SMAD4 ASSOCIATED CANCER RISKS
Juvenile Polyposis Syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT)
SMAD4 ASSOCIATED CANCER RISKS
What does it mean to have a diagnosis of Juvenile Polyposis Syndrome and Hereditary Hemorrhagic Telangiectasia?
Juvenile Polyposis Syndrome (JPS) is caused by mutations in one of two genes: BMPR1A and SMAD4. People with JPS have growths in their digestive system that can lead to cancer. These growths are called “juvenile polyps”, and can develop in adults as well as in children. The most common locations for juvenile polyps are the colon, rectum, gastric (stomach) and small intestine. The juvenile polyps can cause problems by bleeding and/or blocking the intestines.
People with JPS have an increased risk for cancers of the colon, rectum, and stomach. There are also slightly elevated risks for small bowel and pancreatic cancers.
People with SMAD4 mutations also have a condition known as Hereditary Hemorrhagic Telangiectasia (HHT). HHT is a condition where people have leaky connections between the arterial and venous parts of their blood system. These are called arteriovenous malformations (AVMs). Small AVMs cause problems when they lead to bleeding in the nose or digestive system, and some people with HHT have frequent nosebleeds or anemia from loss of blood through their intestines. Some individuals with HHT have larger AVMs in their lungs, brain or liver. These can cause serious problems if they are not found and addressed.
What can be done to protect people with JPS and HHT from cancer and other medical problems?
The National Comprehensive Cancer Network (NCCN) provides recommendations for lowering the risk of cancer and other health problems in men and women with JPS. These recommendations include starting screening of the stomach and intestines at young ages and having the screenings frequently. For example, colonoscopies to check for juvenile polyps in the colon should begin at age 15 or younger and should be done every few years. People with JPS should also be checked for anemia, which could be caused by bleeding from juvenile polyps.
There are also detailed recommendations for the care of people with HHT. They include screening for large AVMs in the lungs and brain in order to prevent them from causing serious problems. There are also treatments to reduce nosebleeds in people if the nosebleeds are interfering with their lives or causing anemia.
Both JPS and HHT are relatively rare conditions, so it is recommended that people with JPS be cared for by healthcare professionals with experience in treating these conditions.
Additional details about JPS and HHT, including information about the risks for different kinds of cancer and other medical problems, specific recommendations for medical care, and useful information for relatives of people who have a diagnosis of JPS and HHT, are available within our Support Organizations pages
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