Peutz-Jeghers Syndrome

Peutz-Jeghers Syndrome (PJS), a rare disorder that is either inherited from a parent or occurs spontaneously, is finally experiencing a strong upsurge in research and diagnosis options. This site seeks to offer information to patients, family, friends, and medical personnel. Any information provided is for general use only. It is not intended as medical advice or diagnosis, and it should not be relied on as a substitute for consultation and treatment with qualified health professionals. No warranty or guarantee is granted or implied.

Persons with PJS have hamaratomas predominately in the small intestine as well fewer amounts of the polyps in the large intestine and stomach. Purple/black pigment spots often dot the lips and other areas of the face and body. Most of the time, the spots disappear sometime in the teen years. Age at diagnosis depends on the severity of symptoms. New research has shown that there is an increased risk of cancer over the general population. STK11 has been identified as the gene location for the syndrome. Current genetic testing can identify a mutation in 30-80% of PJS patients. A new method is in testing that promises to increase genetic identification.

PJS manifests in varying ranges of severity and symptom development. Some patients are diagnosed as children, where others might not be diagnosed until they reach their teen or adult years. The onset of symptoms is the usual catalyst for finding a diagnosis of PJS. Patients will typically develop tens to thousands of hamartomas (benign or pre-cancerous growths) in the stomach and intestines. Most of these polyps will be found in the small intestine. The most common ways of finding polyps, scopes and x-rays, usually fail to show the majority of the polyps in the small intestine. A new diagnosis tool created in Israel is beginning to change this. Information can be found in the “Related Topics” section of this site.

The newest and main concern related to this disorder is the high cancer risk over the general population (ie people without genetic predispositions to cancer). The discovery of this risk has elevated PJS from just a polyps-and-spots disorder to a genetic predisposition to cancer. Patients are encouraged to keep current with all recommended tests and doctor visits. Cancer can be treated easier when caught in its initial stages. Healthcare professionals are urged to work with their patients in keeping abreast of all current developments with PJS and cancer.

UpToDate.com has an extensive page detailing what is involved with this syndrome. Visit that page here. The page is written for professionals, but is useful for patients to have. The Health on the Net Foundation has a list of common names given to the syndrome. Also, names are included for the French, German, Spanish, and Portuguese languages. Click here to visit the site. If you are interested in learning about Dr. Peutz, one of the doctors for which the syndrome is named, go here.