Peutz-Jeghers Syndrome


Peutz-Jeghers Syndrome (PJS) is a rare genetic condition with an estimated prevalence of 1 in 25,000 to 300,000 births and consists primarily of multiple outgrowths called hamartomatous polyps lining the mucous membrane of the gut. These polyps are benign and non-aggressive in nature and most frequently affect the small intestine and stomach. PJS patients suffering from Peutz-Jeghers Syndrome are at an increased risk of several types of gastrointestinal and pancreatic cancers. In females suffering from PJS, chances of cervical, ovarian and breast cancers are high. PJS patients have dark macules on the skin which are especially prominent around eyes, nostrils, within the mucous membrane of the mouth, and also the perianal region. Peutz-Jeghers Syndrome is an inherited autosomal dominant disorder of a protein coding gene called STK11.

Anatomy of Gastrointestinal System (Terese Winslow LLC\National Cancer Institute)


Peutz-Jeghers Syndrome is caused by mutation (abnormal DNA change) in the STK11 gene (protein coding). STK11 is a tumor suppressor gene which maintains the normal tissue structure and prevents aggressive growth of the tissues. Mutation of the STK11 gene renders the tumor suppressor role ineffective, thus leading to the growth of hamartomatous polyps on the mucus lining of the gut. PJS individuals are thus at a risk of developing various types of cancers as well throughout the body due to the abnormal function of STK11 gene.

Signs and Symptoms

Peutz-Jeghers Syndrome is known for the notorious benign polyps seen on the lining of the mucous membrane of the gastrointestinal (GIT) system. Most often PJS patients are anemic due to chronic rectal bleeding along with intestinal obstruction and intussusception resulting in digestive functional complications. With intussusception, there is an increased risk for cutting the blood supply of the adjoining part of the gut which may cause tissue death. Abdominal pain is a common complaint in Peutz-Jeghers Syndrome. Dark stool is also observed which is indicative of bleeding. Clubbed fingers or toes are also seen of the limbs.

Hamartomatous polyps are widely distributed over the mucus lining of the gut, usually seen on the small intestines, stomach and even remote parts such as the lungs, nose and the urinary bladder.

Pigmented macules colored dark blue and brown are present around the eyes and nostrils, within the mouth, gums, and near the anal region as well. These mucocutaneous macules may fade with puberty or later in adulthood.

Benign Polyps (Credits: Juan


Diagnosis of Peutz-Jeghers Syndrome is almost completely established on the basis of signs and symptoms along with a marked family history. However, 90% of the times when diagnosing Peutz-Jeghers Syndrome, there is no evidence of a family history of the disease. Molecular genetic test is available for a definite diagnosis of PJS. Endoscopy of the colon (colonoscopy) will reveal the polyps while blood tests can reveal anemia.


PJS is a genetic condition which has no definite cure. Treatment is symptomatic and carried life-long. Individuals with this condition should be regularly watched for cancerous changes of the more aggressive polyps. Surgery is advised to remove larger and more notorious polyps to prevent further loss of blood. Iron supplements are provided to treat blood-loss anemia.

Females suffering from PJS are more prone to numerous types of cervical, ovarian and breast cancers. Hence, close and periodic monitoring is suggested for early diagnosis and management.

Another important aspect of this rare condition is that genetic counseling should be conducted for those individuals suffering from PJS who plan to have children, or at least have a family history of this condition.