Definition and clinical description

Juvenile polyposis is a disease characterised by the appearance of so-called “hamartomatous” polyps in all organs of the digestive system.

There are four different forms:

  • Infantile juvenile polyposis, whose first symptoms develop before age 6;
  • Colonic juvenile polyposis, gastric juvenile polyposis and generalised juvenile polyposis;
  • These forms depend on the location of the polyps.

Symptoms and prevalence

Signs of the disease depend on its form. This may involve rectal bleeding, anaemia, abdominal pain, diarrhoea or even invagination (folding of the intestine on itself). Other signs may also be found such as delayed growth or oedema.

There is one case per 100,000 persons in Europe and the USA.

Care and treatment

Treatment is based on endoscopy with ablation of the polyps. Regular colonoscopies are recommended to monitor any evolution towards a cancerous form. Preventive ablative surgery of the colon may be proposed.

Diagnostic method

Diagnosis is based on clinical signs, family history and histological results from the biopsy of the polyps. Diagnosis may be confirmed by genetic analysis.