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Friday, 19/9/2025 | 09:01 GMT+7

Teenager diagnosed with juvenile polyposis syndrome due to gene mutation

18-year-old Tran, suffering from constipation for 4 years, was diagnosed with juvenile polyposis syndrome caused by a gene mutation after a colonoscopy revealed a 30 mm polyp.

A colonoscopy at Tam Anh General Clinic, District 7, revealed a 30 mm polyp (a clump of cells and tissue, round in shape, protruding from the intestinal wall on a stalk) obstructing Tran’s colon.

“I rarely see such a large polyp in young patients; usually, they are under 10 mm,” said gastroenterologist Dr. Phung Duc Tien, adding that Tran has juvenile polyposis syndrome, a condition affecting those under 20. This is a dominant inherited syndrome on chromosomes caused by mutations in the SMAD4 and BMPR1A genes, estimated to affect 1 in 100,000 people.

Common symptoms include bleeding, anemia, and constipation, which can be easily mistaken for other conditions, leading to late diagnosis. Patients typically have a few polyps, but in some cases, up to 100 polyps can appear throughout their lifetime, according to Dr. Tien.

The surgical team performed an endoscopic polypectomy using an endoloop to control bleeding and ensure safety. Tran was discharged the same day, free from constipation and rectal bleeding. Dr. Tien noted that the patient still has a high risk of developing more polyps in the colon, mouth, throat, esophagus, stomach, duodenum, and other areas, as well as gastrointestinal cancer. Therefore, regular check-ups and gastrointestinal cancer screenings are recommended as directed by the doctor to detect any polyps early and provide timely treatment.

Dr. Tien performing a colonoscopy on Tran. Photo: Tam Anh General Hospital

Dr. Tien performing a colonoscopy on Tran. Photo: Tam Anh General Hospital

Juvenile polyposis syndrome is a dominant inherited disorder. Dr. Tien recommends genetic testing and screening colonoscopies starting at age 12 for individuals with a family history of the condition. Most colon polyps appear in people 50 and older. However, young people experiencing frequent constipation with bloody stools, fatigue, or unexplained weight loss should undergo a colonoscopy.

Bao Tram

*The patient's name has been changed.

Readers can submit questions about digestive diseases here for doctors to answer.
By VnExpress: https://vnexpress.net/mac-hoi-chung-polyp-vi-thanh-nien-do-dot-bien-gene-4940855.html
Tags: gene mutation polyp Ho Chi Minh City

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