Stomach pain, blood in the stool? It could be Juvenile Polyposis Syndrome (JPS)

Do you or someone in your family, especially a child, have frequent stomach aches? Have you noticed a little blood in your stool? Or are you feeling tired and lethargic? We often dismiss these symptoms as a simple stomach ache or a food intolerance. However, sometimes these symptoms could be caused by a condition that we haven't heard much about, but we should definitely be aware of. Today we are going to talk about one such condition, Juvenile Polyposis Syndrome (JPS).

What exactly is JPS?

Simply put, Juvenile Polyposis Syndrome (JPS) is a genetic condition in which abnormal growths form on the inner walls of our digestive system (gastrointestinal - GI tract). We medically call these growths polyps . Imagine a small grape-like lump hanging from a stalk inside our intestines. That's how these polyps form.

These polyps can form anywhere in our digestive system.

• Stomach
• In the small intestine
• In the large intestine (colon)
• Rectum

But they are most commonly found in the large intestine and rectum. A person with JPS may have anywhere from a few to hundreds of these polyps.

Now you might think that because it has the word "juvenile" in it, this is a disease that only affects young children. Not really. The word "juvenile" here does not refer to the age at which the disease develops. It refers to the nature of the cells that are seen when the polyp is taken and examined under a microscope. However, most of the time, the symptoms of this disease begin to appear in childhood or adolescence , usually before the age of 20.

Are there main types of JPS?

Yes, JPS can be divided into three main types. These classifications are based on the size of the polyps that form and their location.

Who gets this condition? Is it hereditary?

JPS is caused by a genetic mutation, so anyone can develop it. It is a very rare condition. Worldwide, the incidence is about one in a hundred thousand .

Yes, this disease can be inherited . JPS is what we medically call an ``autosomal dominant`` condition. This simply means that even if a child inherits one copy of the mutated gene for this disease from either the mother or the father, it is enough for the child to develop this disease.

• About 75% of JPS patients inherit the condition from their parents.
• In the remaining 25% of cases, the disease can occur due to a spontaneous mutation in the child's body, even though the parents do not have this gene mutation.

What are the symptoms of JPS?

The main symptom of this disease is the formation of polyps, which we talked about earlier, in the intestines. Since these are formed inside the body, we cannot see them from the outside. In most cases, polyps may not show any symptoms until they become a little larger or their number increases. But when symptoms start to appear, they can look like this.

Other characteristics that can be seen at birth

About 15% of JPS patients have other physical abnormalities at birth in addition to intestinal polyps.

• Cleft lip and palate
• Having extra fingers or toes (Polydactyly)
• Developmental abnormalities of the brain, heart, or urinary system
• Twisting of the intestines (Malrotation)

Is there a link between JPS and cancer risk?

This is the most important thing to know about this disease. The polyps that develop due to JPS are not initially cancerous (benign). They are normal tumors. However, over time, there is a very high risk of these polyps transforming into cancer.

Therefore, someone with JPS is at increased risk of developing the following types of cancer:

• Colorectal cancer
• Stomach cancer
• Small intestine cancer
• Pancreatic cancer

Don't be afraid of this. This doesn't mean that everyone will get cancer. But it does mean that the risk is higher. That's why it's extremely important to diagnose the disease at the right time and get screened at the right intervals as recommended by your doctor.

What is the specific cause of JPS?

As we discussed earlier, this is a genetic condition. JPS is mainly caused by mutations in two genes in our body called BMPR1A and SMAD4 .

To understand this, let's use a simple example. Imagine that the cells in our body are like cars on a road. Two genes called BMPR1A and SMAD4 are like traffic police officers. They control cell growth and division, giving the signals "OK, divide now" and "OK, stop now."

When these two genes mutate, like when those traffic cops are gone, cells lose control. They start dividing in whatever way they want, and at a rapid pace. That's how these uncontrolled dividing cells come together and form these tumors called polyps.

In addition to JPS, people with mutations in the SMAD4 gene are at risk of developing another genetic condition called hereditary hemorrhagic telangiectasia (HHT).

How to diagnose this disease?

When you tell your doctor about your symptoms, he or she will examine you and ask about your family medical history. To diagnose JPS, you must have at least one of the following:

• Having five or more polyps in the large intestine and/or rectum.
• The presence of polyps elsewhere in the digestive system.
• Having at least one polyp and a family history of JPS.

There are two main tests to confirm this disease.

1. Endoscopic exam / Colonoscopy: This involves inserting a thin, flexible tube with a camera and light through the anus to examine the entire inside of the large intestine and digestive tract. This can help to see if there are polyps, how many there are, and where they are. During the exam, small polyps can be removed and a tissue sample (biopsy) can be taken for testing.

2. Genetic blood test: A blood sample is taken and tested for the BMPR1A or SMAD4 gene mutations that cause JPS. This can confirm the disease 100% of the time.

What are the treatments for JPS?

The main goal of treating JPS is to remove the polyps . This not only controls symptoms but also reduces the risk of developing cancer in the future. Your doctor will determine the best treatment for you based on your age, health, the number of polyps, and their location.

There are several treatment methods:

• Removing polyps during a colonoscopy: If the polyps are few in number and small in size, they can be cut and removed with the same instrument used to perform the examination.
• Surgical removal of polyps: If the polyps are large or are in a place that is difficult to reach with a colonoscope, surgery may be necessary.
• Surgical removal of a section of the colon: If a large number of polyps are spread out in one area, doctors may decide to surgically remove that entire section of the colon.

If young children have only one polyp, it is usually removed during a colonoscopy. Surgery is rarely performed on children.

How to manage the disease after diagnosis?

JPS is a condition that needs to be managed long-term. After treatment and removal of polyps, we need to be constantly monitored to see if they grow back or if new ones form. That's why we do screenings .

Your doctor will tell you to have these tests on a scheduled schedule.

• Blood tests
• Colonoscopy
• Upper endoscopy

The first test is usually done as soon as symptoms appear or before the age of 15. If the test results are good, you will be asked to repeat the test every 3 years. However, if you have polyps and they have been removed, you may need to have a test every year . If the polyps do not return, the interval between tests can be increased to 3 years.

When do you need to see a doctor?

If you have any of the symptoms we've discussed, especially blood in your stool , never ignore it. It could be a simple hemorrhoid, or it could be a sign of a more serious condition like JPS. So, see your doctor right away.

Also, if someone in your family has had JPS before, or if you have had bowel cancer at a young age, it is wise to talk to your doctor about it and get genetic testing if necessary, even if you have no symptoms.

JPS, Juvenile Polyposis Syndrome, Polyps, Intestinal Tumors, Blood in Stool, Stomach Pain, Genetic Diseases, Colonoscopy