Peutz-Jeghers Syndrome (PJS)

Peutz-Jeghers Syndrome (PJS) is a rare, inherited condition. People with PJS are at an increased risk of developing polyps in the digestive tract, and these are likely to develop into colon cancer if left untreated. The condition  is also associated with a number of other cancers. Without appropriate medical surveillance, the lifetime risk of cancer in people with PJS may be as high as 93%. PJS is inherited from one parent and will be present in successive generations. If an individual has a first degree relative (parent or sibling) with the condition, they should request a genetic test to establish whether they also have the mutated gene.

Early signs of the condition include the development of pigmented areas on the skin and in the mouth. People with PJS tend to develop dark blue or dark brown freckling, especially around the mouth and on the lips, fingers, or toes. Freckles generally appear in childhood and often fade with age, so that they often are not visible in an adult with PJS newly diagnosed with cancer. Another sign of PJS is the development of hamartomatous (non-cancerous) polyps of the gastrointestinal tract that can cause bleeding and blockages. The average age when gastrointestinal symptoms appear is 10 years old.

People with PJS require regular and continuous surveillance, usually by regular colonoscopy examinations. If you have PJS and live in Surrey or surrounding counties, the GUTS Colon Cancer Family Clinic may be able to offer support.