JUVENILE POLYPOSIS SYNDROME

SYMPTOMS

The symptoms of juvenile polyposis syndrome can vary widely among affected individuals but may include:

• Rectal Bleeding: Blood in the stool, rectal bleeding, or changes in bowel habits may occur due to the presence of polyps in the colon or rectum.
• Abdominal Pain: Cramping abdominal pain, discomfort, or bloating may occur, especially if polyps cause obstruction or inflammation in the gastrointestinal tract.
• Anemia: Chronic gastrointestinal bleeding from polyps can lead to iron deficiency anemia, resulting in fatigue, weakness, pallor, and shortness of breath.
• Diarrhea or Constipation: Changes in bowel habits, including diarrhea, constipation, or alternating bowel patterns, may occur, particularly if polyps affect intestinal motility.
• Intussusception: In some cases, large or pedunculated polyps may lead to intussusception, a serious condition in which one segment of the intestine telescopes into another, causing obstruction and abdominal pain.

DIAGNOSIS

Diagnosing juvenile polyposis syndrome involves a combination of clinical evaluation, endoscopic examination, imaging studies, and genetic testing. Diagnostic steps may include:

• Colonoscopy: A colonoscopy is performed to visualize the colon and rectum and identify the presence of multiple juvenile polyps. Biopsy samples may be obtained during the procedure for histopathological examination.
• Upper Endoscopy: An upper endoscopy may be performed to evaluate the upper gastrointestinal tract for the presence of polyps, particularly in individuals with symptoms such as dyspepsia or upper abdominal pain.
• Imaging Studies: Imaging modalities such as computed tomography (CT) or magnetic resonance imaging (MRI) may be used to assess for complications such as intussusception, bowel obstruction, or extraintestinal manifestations of JPS.
• Genetic Testing: Molecular genetic testing can identify mutations in genes associated with juvenile polyposis syndrome, confirming the diagnosis and providing information about inheritance patterns.

TREATMENT

Treatment of juvenile polyposis syndrome aims to manage symptoms, prevent complications, and reduce the risk of colorectal cancer. Treatment options may include:

• Endoscopic Polypectomy: Small or localized polyps can be removed during colonoscopy using endoscopic techniques such as polypectomy or snare resection.
• Surgical Resection: Large or symptomatic polyps, or those associated with complications such as intussusception or obstruction, may require surgical resection of affected segments of the intestine.
• Surveillance Colonoscopy: Regular surveillance colonoscopy is recommended for individuals with JPS to monitor for polyp growth, detect dysplasia or early signs of malignancy, and guide appropriate management.
• Chemoprevention: Chemopreventive agents such as nonsteroidal anti-inflammatory drugs (NSAIDs) or cyclooxygenase-2 (COX-2) inhibitors may be used to reduce polyp burden and lower the risk of colorectal cancer in individuals with JPS.