Which are the symptoms of Juvenile polyposis syndrome?

Symptoms of Juvenile Polyposis Syndrome

Juvenile polyposis syndrome (JPS) is a rare genetic disorder characterized by the development of multiple noncancerous growths called juvenile polyps in the gastrointestinal tract. These polyps primarily affect the colon and rectum, but can also occur in the stomach and small intestine. JPS is an autosomal dominant condition, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the disorder.

1. Gastrointestinal Symptoms:

The most common symptoms of JPS are related to the gastrointestinal tract. These may include:

• Rectal bleeding: Blood in the stool or visible bleeding from the rectum.


• Abdominal pain: Cramping or discomfort in the abdomen.


• Diarrhea: Frequent loose or watery stools.


• Constipation: Difficulty passing stools or infrequent bowel movements.


• Intestinal obstruction: Blockage of the intestine due to the presence of large polyps.

2. Anemia:

Chronic bleeding from the polyps can lead to iron deficiency anemia, which is characterized by low levels of red blood cells and reduced oxygen-carrying capacity. Symptoms of anemia may include fatigue, weakness, pale skin, shortness of breath, and dizziness.

3. Intussusception:

In some cases, the juvenile polyps can cause a condition called intussusception, where one segment of the intestine telescopes into another segment, leading to obstruction. This can result in severe abdominal pain, vomiting, and a swollen abdomen. Intussusception is a medical emergency and requires immediate attention.

4. Family History:

JPS is a hereditary condition, so individuals with a family history of the disorder are at a higher risk of developing it themselves. If multiple family members have been diagnosed with JPS or have a history of juvenile polyps, it is important to consider genetic testing and screening for early detection and management.

5. Other Associated Conditions:

Some individuals with JPS may also have an increased risk of developing other conditions, including:

• Hereditary hemorrhagic telangiectasia (HHT): A disorder characterized by abnormal blood vessel formation, leading to nosebleeds, skin lesions, and arteriovenous malformations.


• Colorectal cancer: While most juvenile polyps are benign, individuals with JPS have an increased risk of developing colorectal cancer, especially if the polyps are numerous or large.

Seeking Medical Attention:

If you or your child experience any of the symptoms associated with JPS, it is important to consult a healthcare professional for a proper diagnosis and appropriate management. Early detection and intervention can help prevent complications and improve outcomes.