JPS | Symptoms & Causes
What are the symptoms of JPS?
Children may begin to experience symptoms during early childhood. Abnormal signs and symptoms that may develop in the course of the disease include:
Most polyps in JPS are non-cancerous (benign). However, polyps can change and become cancerous. Colon cancer is the most serious risk of JPS, with up to a 50 percent chance of developing colon cancer during their lifetime.
What causes JPS?
JPS is usually caused by a mutation in one of two genes — SMAD4 or BMPR1A gene — and rarely a third gene, PTEN, is involved. The mutation can happen in two ways:
- It can be passed down from a parent (in 50 percent of children).
- It can be a new mutation in the SMAD4 or BMPR1A gene.
If a child has JPS and the SMAD4 gene, they may also have an associated congenital vascular condition known as hereditary hemorrhagic telangiectasia.
Not all children will have an identified mutation.
JPS | Diagnosis & Treatments
How is juvenile polyposis syndrome diagnosed?
Patients are tested for juvenile polyposis syndrome by performing a colonoscopy, a procedure in which a long, flexible tube with a light and camera on the end goes inside the rectum and up into the large intestine. An upper GI endoscopy is often performed simultaneously. This procedure also uses a long, flexible tube that examines the esophagus, stomach, and small intestine.
Another way to test for JPS is by genetic testing of the SMAD4 or BMPR1A gene.
Should my child be screened for JPS?
Children should be tested for JPS if they have a family history of JPS, colon cancer at a young age, or are showing any of the symptoms.
An initial test for JPS should be performed:
- By 8 to 10 years old for high-risk family history
- By 15 years old for an average-risk child
- At the time of first symptoms
Average and high-risk are determined based on family history or known high-risk gene mutations.
How is JPS treated?
Most polyps are treated by removing them with an endoscope, a procedure known as a polypectomy. But when the polyps are very large or there are too many, or if they present a risk for cancer, then surgery may be necessary.
There is no cure for JPS. Treatment reduces complications, such as abdominal pain, bowel obstruction, GI bleeding, and cancer.
How we care for JPS
The Boston Children's Hospital Pediatric Polyposis Program provides comprehensive care for children with JPS. Our team specializes in the treatment of pediatric polyposis conditions, bringing together GI endoscopy, Genetics, Surgery, and other specialties when necessary. We also are fortunate to work closely with one of the top pediatric cancer centers in the country — Dana-Farber/Boston Children’s Cancer and Blood Disorders Center.
