Juvenile polyposis

Juvenile Polyposis Syndrome (JPS) is a rare genetic disorder characterized by the development of multiple polyps in the gastrointestinal tract. The condition is typically diagnosed in childhood or adolescence, hence the term 'juvenile'.

Etiology

Juvenile Polyposis Syndrome is caused by mutations in the SMAD4 or BMPR1A genes. These genes provide instructions for producing proteins that help regulate cell growth and division. Mutations in either of these genes disrupt this regulation, leading to the formation of polyps.

Clinical Presentation

Individuals with Juvenile Polyposis Syndrome typically develop polyps in the colon and rectum, but polyps can also occur in the stomach and small intestine. Symptoms may include rectal bleeding, anemia, abdominal pain, and diarrhea. In some cases, polyps may become cancerous.

Diagnosis

Diagnosis of Juvenile Polyposis Syndrome is based on the presence of multiple juvenile polyps in the gastrointestinal tract. Genetic testing can confirm the diagnosis by identifying mutations in the SMAD4 or BMPR1A genes.

Treatment

Treatment for Juvenile Polyposis Syndrome typically involves regular endoscopy to monitor for polyp development and remove any polyps that are found. In severe cases, surgery may be required to remove part or all of the colon.

Prognosis

With appropriate management, individuals with Juvenile Polyposis Syndrome can lead normal lives. However, they have an increased risk of developing colorectal cancer, so regular monitoring is essential.

See Also

• Polyposis
• Genetic disorders
• Colorectal cancer

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