Juvenile polyposis syndrome

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Juvenile polyposis syndrome is the autosomal dominantly inherited condition is characterized by the development of multiple rectal and colonic polyps around puberty. Polyps are non-neoplastic, hamartomatous which are the growth arising from the lumen of the stomach or colon. It is non cancerous but there is an increased risk of development of adenocarcinoma.

What causes the Juvenile polyposis syndrome?

Juvenile polyposis syndrome is caused by the mutation in the BMPR1A and SMAD4 gene on chromosome 5.

What are the symptoms and sign of Juvenile polyposis syndrome?

There is no any specific sign and symptoms for this condition but some people have

  • Rectal bleeding
  • Anemia
  • Abdominal pain,
  • Constipation
  • Diarrhea

How to Diagnosed Juvenile polyposis syndrome?

Diagnosis of juvenile polyposis syndrome includes:

  1. Family history of juvenile polyposis syndrome
  2. On endoscopy, colonoscopy or Sigmoidoscopy presents of polyps that vary in shape of size.
  3. Mutation of BMPR1A gene or the SMAD4 gene.

How to managed Juvenile polyposis syndrome?

Surgery is the only treatment option for this syndrome.  If the condition is pre-malignant, a total colectomy must be performed; often, the rectum can be preserved, but regular flexible endoscopy and removal of polyps before they developed carcinoma are required.If patients developed adenomas, colonoscopic polypectomy is required.

What is the prognosis of Juvenile polyposis syndrome?

Juvenile polyposis syndrome is the non cancerous condition but is considered to be at increased risk of developing stomach, colorectal, intestine and pancreatic cancers. 9% to 50% have the risk of developing cancer

References:

  • Sabiston textbook of surgery 18th edition
  • Bailey and love, surgery 25th edition
  • The Washington manual of surgery, 5th edition.
  • emedicine.medscape.com

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