Peutz Jeghers Syndrome
PJS is a rare inherited disease that affects approximately 1 in 160,000 to 1 in 280,000 people. Not everyone with PJS will develop cancer, but those affected by PJS are at an increased risk, and should undergo regular screening.
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 hereditary cancer, please visit eviQ and click on the
Cancer Genetics tab.
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