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What is PJS?

Hereditary Cancer Registry
Peutz Jeghers Syndrome (PJS)

What is PJS?

• PJS stands for Peutz-Jeghers Syndrome (pronounced pertz yay-ger).
• PJS is a rare inherited disease that affects approximately 1/160 000 to 1/280 000 people.
• PJS is inherited in an autosomal dominant pattern: an affected person has a 50% chance of passing the condition on to each of their children, whether male or female.
• PJS is characterised by freckling, gastrointestinal polyposis and an increased risk of developing certain types of cancers.
• Not all patients show all of these features or develop any particular feature to the same extent as other PJS patients, that is, PJS is different in each patient.

What are the features of PJS?

• Polyps: Patients will typically develop dozens to thousands of polyps called hamartomas (which means a benign growth). Hamartomas usually begin forming during childhood. These polyps primarily develop in the lining of the small intestine (jejunum, ileum and duodenum). However, they can also occur elsewhere in GI tract (stomach and large bowel). The age of onset for symptoms from polyps is variable. Sometimes mushroom shaped polyps called adenomas may also develop.
• GI Problems: Gastrointestinal symptoms include abdominal pain and bloated feeling resulting from gastrointestinal polyps twisting and blocking the inside of the small intestine. Bleeding can occur as hamartomas rub against intestinal lining, which can lead to tiredness and lack of energy. Anaemia may develop as a result of bleeding. Intussusceptions (infolding of one part of the intestine into another) can also occur. People with PJS may also report rectal bleeding or blood in their stool.
• Freckling: Most people with PJS have flat deeply pigmented spots around and inside their mouth, on their lips, fingers and toes. Less commonly, these spots can be seen on hands and feet, in the mucosa of the nose, conjunctiva or rectum. Skin pigmentation can vary in colour from bluish black to dark brown to blue. These freckles are harmless and begin to appear very early in childhood and then may disappear into adulthood. However, pigmentation on the inside of the mouth normally remains through adulthood. There is no association between the number of freckles and the severity of PJS. Some people may have bowel polyps without freckles, while some people with PJS will only develop freckles.
• Other: Very early puberty can occur and occasionally men develop gynecomastia (an excessive development of the male mammary glands, even to the functional state).
• Cancer Risk: People with PJS have an increased risk of developing cancer and with a younger age of onset than those in the general population. Cancer of the stomach, small intestine, colon and pancreas may occur. Women affected by PJS have an increased chance of developing cancer of the breasts, ovaries or cervix. Men, there is an increased chance of developing cancer of the testicles.
  
  Not everyone with PJS will develop cancer, but those affected by PJS are at an increased risk, and should undergo regular screening.

What can be done if someone has PJS?

It is important that the characteristic features of PJS are diagnosed soon after they appear so that they can be treated as early as possible. Speak to your specialist about the best screening schedule for you.

If any of the characteristic features of PJS are found, your doctor will recommend the most appropriate form of treatment for you at that time.

Genetic testing

• Researchers have identified a gene change that causes PJS.
• If the gene change is identified in your family, other relatives at risk of carrying the gene change can be tested.
• Sometimes the changed gene is not found in the family and this means that in your family's case, PJS may be due to other gene changes that research has not yet identified. If the family gene change is not found, genetic testing is not able to be offered to other family members.
• If a family gene change is found, the rest of the family can be offered predictive testing. This means testing to see if you are at risk of PJS by checking whether or not you have the gene change even though you may not have any signs or symptoms yet.
• A blood test is needed for gene testing. For further information speak with a Genetic Counsellor.

What if I suspect I have PJS?

Speak to your doctor, a Genetic Counsellor or call the Hereditary Cancer Registry on 1800 505 644.

For more information on Cancer Genetics and hereditary cancer, please visit CI-SCaT and click on the patients & carers tab.