What is Peutz-Jegher’s syndrome?
Peutz-Jegher’s (PJ) syndrome is a rare hereditary condition that results in gastrointestinal polyps and freckles on the skin. Approximately 1 in 25,000 people have PJ. The original family was described by Harold J. Jeghers, M.D., in 1949.
The cause for Peutz-Jegher’s is an inherited abnormality (mutation) in a gene on chromosome 19. The mutation in the LKB1 or STK 11 gene seems to result in a predisposition to benign and cancerous tumors, but its function is not completely understood.
What are signs that someone may have PJ?
A variety of features may be present in patients with PJ. The most distinctive feature is freckles. The freckles are unusual in that they occur on the lips or in the mouth and around the eyes and nose. They also can be seen around the anus, hands and feet. The freckles are usually present in infancy or childhood and may fade with age. There have been no reports of the freckles turning into cancer.
Gastrointestinal polyps are the most problematic aspect of PJ. The polyps are called hamartomas. They often are multiple and usually occur in the small intestine. Less commonly, they are found in the colon and stomach. Most PJ patients will experience abdominal pain due to polyps in the small intestine. The polyps can also cause an intestinal blockage, called an obstruction or intussusception. Half of Peutz-Jegher’s patients have the onset of symptoms and many have needed surgery due to a bowel blockage by age 20.
Recent studies have documented that a patient with PJ has an increased risk of cancer. The cancers can occur within the intestinal tract. Tumors may occur in other areas of the body also. These include unusual tumors of the reproductive system in men (testicles) and women (ovaries) called SCTAT (sex cord tumors with annular tubules). Breast, pancreas, cervix and thyroid malignancies occur more commonly in PJ patients than in the general population.
How is PJ diagnosed?
PJ is diagnosed when the intestinal tract shows signs of freckles or hamartomas. Since PJ is hereditary, a medical check of the family members of a patient with PJ might reveal the condition. Parents have a 50 percent chance of passing the abnormal gene to their children. If one family member has been diagnosed with PJ, then other close family members should be checked to see if they have inherited PJ.
What are the tests to keep patients with PJ healthy?
A significant breakthrough in the diagnosis of PJ was made with the discovery of the gene called STK11 (or LKB1) that causes the syndrome. Mutations in the gene can be passed from parent to child. The other way to get the gene is by acquiring the genetic abnormality at conception or when the egg and sperm are fertilized.
If a parent has PJ, there is a 50 percent chance that the abnormal gene will be passed to the child. Blood testing for this gene is not widely available. It should be done on someone that has PJ first. If the gene mutation for PJ is detected, other family members that are predisposed to PJ can be tested. Gene tests only detect who has or has not inherited the abnormal gene. It does not detect polyps and cancer. If the family’s gene mutation cannot be found or if someone inherits the family mutation for PJ, regular checkups are essential to prevent symptoms and cancer.
In order to prevent abdominal pain and intestinal obstruction or intussusception, examination of the complete gastrointestinal tract is recommended. The age to begin screening depends on the family history and any symptoms that are present.
An upper endoscope is a thin, flexible tube that can be passed into the esophagus, stomach and upper portion of the small intestine called the duodenum. It has a light on the end and allows the doctor to examine the lining of the intestine. This examination should be done every one to two years.
X-ray of the Small Intestine
The majority of the small intestine is not examined during the upper endoscopy. Because polyps tend to grow throughout the small intestine, a complete examination of the entire small intestine should be performed. During the x-ray, patients drink a white fluid that coats the lining of the small intestine. The radiologist takes a series of x-rays and looks for any polyps. Larger-sized polyps which may cause symptoms should be removed through an operation or during endoscopy with a longer scope. The small intestinal x-ray test should be performed when patients have symptoms of abdominal pain, nausea or vomiting.
A new technology called capsule endoscopy is probably the most accurate way to evaluate the small intestine for polyps. This could replace the small bowel x-ray and should be performed every two years.
The exam of the entire six feet of the colon takes about 20 minutes and is usually quite comfortable. Through regular colorectal checks, polyps can be removed before they cause symptoms or turn into cancer. Examinations of the colon by colonoscopy are the best way to detect colon polyps or colon cancer. A colonoscope is a thin, flexible tube that is passed into the colon. It has a light on the end and allows the doctor to examine the lining of all six feet of the colon. Patients drink a special solution to cleanse the colon the night before the test. The doctor usually gives a sedative through the vein just before inserting the scope. Patients cannot drive for about eight hours after the procedure because of the effects of the sedative. Someone must drive the patient home, but light duties can be resumed the rest of the day. This examination should be done every one to three years.
How often should a person be examined?
Uterus, Ovary and Cervix
Annual Pap smear with pelvic examination and transvaginal ultrasound beginning as a teenager.
Breast examinations beginning by the age of 20 and yearly mammograms beginning at the age of 30.
Testicular examinations starting by the age of 20.
If other cancers are prominent in a family, directed checks of the organs involved should be offered to the affected or at-risk family members.
Enrolling in a registry is one of the best ways to get up-to-date information on inherited syndromes and the latest in research and new treatments.