Peutz-Jeghers Syndrome (PJS)
Although discovered by Dr. Peutz in 1921, PJS, as it is called, was not widely known until 1949. At that time, Dr. Jeghers and his colleagues described small dark freckles around the lips, cheeks, fingertips or toes, as well as up to several dozen polyps in the large and small intestine which mostly developed from birth to early adulthood. Patients with PJS generally do not have the same type of precancerous polyps as those with FAP. There is a small risk of cancer within or outside the intestine which may increase with age. Women undergo regular breast and ovarian examination while men are checked for testicular growths, as well as bowel follow-up.
This is an inherited disease of the gastrointestinal tract first described in 1896. A Dutch doctor, Dr. Peutz in 1921, and an American doctor, Dr. Jeghers, in 1944 were responsible for identifying the various features of the disease. The term "Peutz-Jeghers Syndrome," or PJS, was first seen in the medical literature in 1954. It is a rare disorder affecting approximately 1 in 100,000 people. The hallmark features are:
- Treelike branching polyps called hamartomas develop in the lining of the large bowel and small intestine, more often in the small intestine. Hamartomas may be tiny or large and have a firm surface, often sitting on a stalk. When seen under the microscope, hamartomas have smooth muscle at their centre. Sometimes, mushroom-shaped polyps called adenomas may also develop.
- Small freckles which range in colour from brown to blue or black, around the lips or eyes, inside the cheeks, on the nose, fingertips, or toes. These freckles are harmless and often develop in affected babies or children, offering an early clue to this disease. Very dense freckles on the lips can be treated without harming the delicate skin.
- Talk to a dermatologist who is a skin specialist in laser therapy. Since these freckles may fade as one gets older, patients may forget that they had these freckles as a child and may be misdiagnosed when they develop bowel symptoms. There is no association between the number of freckles and the severity of PJS. Some people may have bowel polyps without freckles and still have PJS. Some people who have a family history of PJS will only develop freckles.
- A 50 per cent likelihood that each child of an affected parent will inherit the PJS gene
What are the symptoms of PJS?
People are generally diagnosed because of crampy abdominal pain and a bloated feeling. One or more hamartomas may twist on a stalk and block the inside of the small intestine. Constipation may alternate with diarrhea. As hamartomas rub against the intestinal lining, bleeding may occur, leading to persistent tiredness and lack of energy. Severe anemia may develop as a result of significant bleeding which is not detected or treated and should be an important warning sign in someone who has a family history of PJS.
How is PJS diagnosed?
X-ray examination of the small intestine using a contrast dye is performed to highlight the intestine.
The small intestine is divided into the duodenum which comes first, the jejunum in the middle, and the final portion called the ileum. A flexible tube with an optical system called a gastroscope is passed into the windpipe, stomach, and the duodenum.
A colonoscope is a similarly lighted tube which allows the doctor to examine the large bowel, sometimes called the colon. Both tubes have a wire loop which can be inserted to remove all or part of any polyps seen. This tissue can then be biopsied, or examined microscopically, to confirm the type of polyp.
How is PJS treated?
Treatment is tailored to each patient and is mostly confined to removal of large polyps and the area of affected bowel. Patients require examination of the large and small intestine using flexible fibre optic instruments which have a wire loop to remove all or part of the polyp(s) in the large bowel and in the first part of the small intestine. Special bowel x-rays highlight the remainder of the small intestine.
What Happens if I have Hamartomas?
If you only have a few small hamartomas, the x-ray and examination of the large and small intestine should be repeated every 2 years. If a polyp is not too large and is in an area which can be reached by a scope, it may be possible to remove it through the scope. If a polyp is larger than 1.5 cm, it should be surgically removed. Surgery may also be indicated for abdominal pain when worrisome intestinal polyps are picked up on x-ray or a scope, or a bowel blockage occurs, or the polyps bleed, or a change in polyp tissue is diagnosed microscopically.
Why do some people with PJS develop cancer?
There is an increased risk for cancer, either in the tissue of a hamartoma or an adenoma, within the gastrointestinal tract. For women with PJS, a somewhat increased chance of developing cancer of the breast, ovaries, or cervix has been reported.
For men, cancer of the testis has been observed slightly more frequently than in the general population . Cancer of the pancreas may also occur. This does not mean that everyone with PJS will develop cancer. It is important to be alert for symptoms such as ongoing abdominal pain, intestinal bleeding, yellowing of the skin, or unexplained tiredness. A blood test can be done to check the hemoglobin every year to ensure that anemia is not present.
How PJS is Inherited?
If an individual with a family history of PJS is affected, the children and siblings have a 50 per cent risk. The risk is the same for each pregnancy. If other family members have PJS, you may be diagnosed earlier as a result of bowel examination or freckling, before any bowel symptoms develop.
If no one else in the family has PJS except you, it may be that a spontaneous genetic change is responsible. You were probably diagnosed because you came to the doctor with cramping, with or without a blockage in the intestine, anemia, or a cancer.
If you are affected, your children will have the same 50 per cent risk of having inherited the PJS gene. PJS is a genetic condition which means that it can be passed from generation to generation within a family. PJS is passed through a family by way of a gene. Genes decide how our cells develop and how they work. When cells divide, the genes copy themselves. When copying takes place perfectly, genetic information is passed from one generation to the next without abnormalities. However, if even a tiny change occurs, a gene may carry the wrong information. Genetic research has recently identified a PJS gene on chrosomosome 19.
Scientists can now confirm a definite diagnosis of PJS in some affected families with PJS. Once the responsible genetic change is found in someone who has PJS, relatives who are at risk can have a gene test. Genetic counselling and testing is offered on a research basis for PJS. International research on PJS will ensure the expansion of knowledge about the genetic basis of this disease which, in turn, may lead to improved treatment.
Where can I Learn More about PJS?
The Familial Gastrointestinal Cancer Registry is a family study centre for families with different inherited polyp syndromes, including PJS. The focus of our Registry is to help families learn what steps can be taken to reduce the risk of cancer. We provide educational materials so that people can keep up to date with current treatment and research news.
Having access to practical information makes you feel less alone and may relieve some of the uncertainty which comes with a diagnosis of a rare disease. Referral to specialists across Canada with a particular interest in PJS is part of our service. Learning about PJS will allow you to make better health care decisions for yourself and your family.
If you would like to know more about PJS, please contact us.