Anyone would be very scared if they saw blood in their stool, especially in a young child. Or are you worried about things like persistent stomach aches, bloating, and feeling lethargic? These can sometimes be symptoms of a genetic condition we're going to talk about called Juvenile Polyposis Syndrome (JPS). Don't be scared even though the name sounds a bit complicated. Although this is not a very common condition, it's important to be aware of it. Let's talk about it in a simple way that you can understand.
Simply put, what is Juvenile Polyposis Syndrome (JPS)?
Simply put, JPS is a genetic condition that causes small growths called polyps to form on the walls of our digestive system (gastrointestinal (GI) tract) . These are like little seeds hanging from a small stalk.
These polyps can develop anywhere in the digestive system, but they are most commonly found in:
- Colon
- Rectum
In addition, they can sometimes develop in the stomach and small intestine. A person with JPS may have several of these polyps, sometimes more than a hundred.
When we say "juvenile," does this mean that this is a disease that only affects young children?
This is a question that many people have in mind. When we hear the word "juvenile," we think of young children and young adults. However, the word is not used here to refer to the age of the patient. The name is given based on how these polyps look under a microscope (the nature of their cells).
However, the most important thing is that the symptoms of JPS often begin to appear before the age of 20 , that is, during childhood or adolescence. Therefore, one might think that this name is somewhat appropriate.
Are there main types of JPS?
Yes, JPS can be divided into three main types. Each type is slightly different from the other. Let's see what they are.
| JPS Type | Description |
|---|---|
| Juvenile polyposis of infancy (JPI) | This is the most severe and serious type of JPS. It affects young infants and young children. |
| Generalized juvenile polyposis | This is the most common type of JPS. In this type, polyps can develop anywhere in the digestive system (stomach, small intestine, large intestine). |
| Juvenile polyposis coli | In this type, polyps only form in the colon . |
Is this disease hereditary?
Yes, JPS is a hereditary disease. It is transmitted in an autosomal dominant manner. Now you may be wondering what this autosomal dominant means.
Simply put, this means that even if a child inherits the gene that causes this disease from only one parent , either the mother or the father, it is enough for the child to develop this condition.
About 75% of JPS patients inherit it from their parents in this way. But in about 25% of cases, it is caused by a new genetic mutation that no one in the family has had before. This means that someone can develop it even if no one in the family has it.
What are the symptoms of JPS?
The main feature of JPS is the polyps we talked about earlier. These grow inside the body, so we can't see them from the outside. However, very rarely, some polyps can be seen outside the rectum.
Most of the time, symptoms appear when polyps grow in size or number. It is these polyps that we should be concerned about.
| Symptoms caused by polyps |
|---|
| 🩸 Blood in the stool or rectal bleeding: This is the most common and first symptom. |
| 😩 Feeling weak and tired (Anemia): This condition can occur due to a decrease in the amount of blood in the body due to continuous bleeding. |
| 😖 Stomach ache or pain: Polyps can disrupt bowel function and cause cramps. |
| 🚽 Diarrhea or Constipation: The pattern of bowel movements may change. |
| 📉 Continued weight loss: If you are losing weight for no reason, you should be concerned. |
Other characteristics that some children may have at birth
About 15% of JPS patients may have other physical abnormalities present at birth in addition to polyps. These include:
- Cleft palate
- Having extra fingers on the hands and feet (Polydactyly)
- Developmental abnormalities of the brain, heart, genitals, or urinary system
- Intestinal twisting (Malrotation)
- Changes in blood vessels in the skin (Telangiectasia)
Is there a link between JPS and cancer risk?
This is very important and something we need to pay attention to. Polyps caused by JPS initially develop as non-cancerous (benign) tumors. That means they are not cancerous.
However, people with JPS have a higher risk of developing digestive system cancers than others. This is the most dangerous aspect of this disease. The risk can be as high as 30% - 50%.
Cancers with higher risk:
- Colorectal cancer
- Stomach cancer
- Pancreatic cancer
- Small intestine cancer
This does not mean that everyone with JPS will develop cancer. However, since the risk is high, it is essential to diagnose the disease at the right time, remove polyps, and undergo regular checkups as prescribed by the doctor. Then this risk can be controlled to a large extent.
Why does JPS occur? What is the scientific reason?
JPS is caused by a mutation in one of two genes in our body, BMPR1A and SMAD4 .
Think of these two genes as two "supervisors" that control the work of our cells. Their main job is to tell cells, "Okay, divide now" and "Okay, stop dividing now." This is how they control cell growth.
What happens in JPS is that when these genes are mutated, that "supervisor" doesn't work properly. Then the cells get out of control. They divide too quickly, pile up on top of each other, and form those polyps we mentioned.
How is JPS diagnosed?
If you have symptoms of JPS, your doctor will first examine you and ask about your symptoms and whether anyone in your family has had similar conditions. To be diagnosed with JPS, you must have at least one of the following:
* Having five or more polyps in your colon and/or rectum.
* The presence of polyps in other parts of the digestive system.
* Having a family history of JPS, along with the presence of polyps.
What tests are done for this?
The doctor will recommend several tests to confirm the diagnosis:
- Colonoscopy or Endoscopy: This involves inserting a thin, flexible tube with a camera and light through the anus to examine the inside of the large intestine. This can help determine if polyps are present, where they are, and how many there are. To examine the stomach, the tube is inserted through the mouth (Upper GI Endoscopy).
- Genetic blood test: A blood sample is taken and tested for the genetic mutations that cause JPS.
What are the treatments for JPS?
The main goals of treatment for JPS are to remove polyps, control symptoms, and reduce the risk of cancer. 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 there are only a few polyps, they can be cut and removed using special instruments passed through the tube.
- Surgical removal of polyps: If the polyps are very large or are in a location that cannot be removed during a colonoscopy, surgery may be necessary.
- Surgical removal of a section of the colon or stomach: If there are a large number of polyps in one area, doctors may decide to remove that entire section of the colon.
How do you manage your life after being diagnosed with the disease?
There is no cure for JPS. Therefore, once diagnosed, the most important thing is to learn to live with it and manage the disease. The best way to do this is to undergo regular medical screenings.
How often should I get tested?
- The first test should be done when symptoms first appear or before the age of 15 .
- If there are no problems during the first examination (no polyps), it is sufficient to be examined every 3 years .
- If you have had multiple polyps and had them removed or had surgery, you should be screened every year . If no polyps are found again, you can switch to screening every 3 years, as advised by your doctor.
After treatment, you need to give your body time to heal. It usually takes about two weeks for symptoms to subside and you to start feeling better.
Whenever you need to see a doctor.
If you have symptoms of JPS, especially blood in your stool , don't ignore it. See a doctor as soon as possible. Also, if anyone in your family has a history of polyps or JPS, be sure to tell your doctor. Because this is a hereditary disease, that information is very important in diagnosing the disease.
Take-Home Message
- JPS is a genetic condition that causes polyps to form in the digestive system.
- The main symptoms are blood in the stool, stomach pain, and feeling lethargic. If you notice anything like this, see a doctor immediately.
- The name "juvenile" refers to the nature of the polyps, not the age of the patient. However, symptoms often appear in young people.
- JPS increases the risk of developing cancer. Therefore, as the doctor says, it is essential to have tests like colonoscopy at the right time to protect your life.
- Although there is no complete cure for this, by removing polyps and being under constant medical supervision, the disease can be well controlled and a normal life can be led.
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