Peutz-Jeghers syndrome

Definition

Peutz-Jeghers syndrome (PJS) is a disorder characterized by intestinal polyps. In addition, pigmented spots develop from infancy through childhood around the lips, gums, mucous membranes, and skin.

The polyps develop most commonly in the small intestine, but also in the colon. There may be a significant risk of these polyps becoming malignant and thus of patients developing cancer. Some studies link PJS and cancers of the gastrointestinal tract, lung, breast, uterus, and ovaries.

There are two types of PJS - "familial" PJS, which is inherited, and "sporadic" PJS, which displays no hereditary link.

Causes, incidence, and risk factors

When inherited, Peutz-Jeghers syndrome is transmitted as an autosomal dominant trait. This means that, on average, each child of someone with familial PJS has a 50-50 chance of inheriting PJS.

Symptoms

• A family history of Peutz-Jeghers syndrome
  
• Dark freckles on and around the lips of a newborn
  
• Brownish or bluish-gray pigmented spots on the lips, gums and inner lining of the mouth
  
• Crampy Abdominal pain, Vomiting
  
• Occasional visible blood in the stool
  

Signs and tests

• Intestinal polyps
  
• Intussusception (part of the intestine folds in on itself)
  
• Clubbed fingers or toes
  
• Exostoses (benign tumors in the ear)
  
• Anemia
  

Tests

• Genetic testing
  
• X-ray of abdomen to detect intestinal polyps
  
• Stool guaiac (a test for blood in the stool)
  
• Complete blood count (CBC)
  
• Total iron-binding capacity (TIBC) (a blood test)
  
• Polyps biopsy (colonoscopy or flexible sigmoidoscopy)
  

Treatment

Surgery may be needed to remove polyps that cause chronic problems. Iron supplements help counteract blood loss.

In addition, the patient should be monitored periodically to watch for malignant changes in polyps. Comprehensive surveillance guidelines can be found at geneclinics.org. A booklet with additional information by Johns Hopkins University is available at hopkins-coloncancer.org.