Peutz-Jeghers Syndrome - Diagnosis and Prevention.

Introduction:

Peutz-Jeghers syndrome appears as non-cancerous tissue growth in the gastrointestinal tract and dark-colored lesions in the skin. They cause symptoms like stomach pain, rectal bleeding, diarrhea, vomiting, etc. They are often found with clinical signs and genetic testing. Although there are no specific treatments for Peutz-Jeghers syndrome, a colonoscopy is done to remove the polyps.

What Is Peutz-Jeghers Syndrome?

Peutz-Jeghers syndrome is a genetically inherited condition. The condition is transferred from the parents to the children. It causes multiple non-cancerous lesions called hamartomatous polyps in the intestine, specifically the stomach, small intestine, and colon (part of the large intestine). It also increases the risk of turning these non-cancerous lesions into cancerous tumors. It also causes cancer in multiple organs like the pancreas, cervix, breast, gastrointestinal tract, ovaries, lungs, and testes.

What Causes Peutz-Jeghers Syndrome?

Mutations in the gene STK11 (serine-threonine kinase11) cause this genetic disorder. It is a tumor-suppressing gene and stops the cells from multiplying rapidly and growing excessively. When there is a mutation in this gene, it prevents cell multiplication and fails to control cell growth. Thus, leading to abnormal cell division and tissue overgrowth.

In addition, a few people develop Peutz-Jeghers syndrome without a genetic predisposition, and the causes are unclear.

What Are the Symptoms of Peutz-Jeghers Syndrome?

• Dark-color spots on the face, especially around the nostril, corner or lips, inside the mouth, the eyes, the extremities, and the anus (external part through which feces are excreted). The dark spots disappear with aging.

• Multiple benign intestinal polyps or stomach polyps also develop during childhood or adulthood. The polyps in the intestine tend to bleed and may cause obstructions (block).

• Stomach pain.

• Anemia (insufficient healthy red blood cells).

• Vomiting.

• Diarrhea.

• Bleeding in the rectum.

• Intestinal intussusception (a condition where the intestine folds inside itself).

What Tests Are Performed to Find Peutz-Jeghers Syndrome?

• Family History: The clinical findings and thorough family history will help the doctor rule out the disease. If the following criteria are found in the patient, the patient is positive for Peutz-Jeghers syndrome.

  • The presence of at least two polyps.

  • The presence of one or multiple polyps and one close family member has the Peutz-Jeghers syndrome.

  • The presence of dark-color spots called melanotic macules or a close relative has the Peutz-Jeghers syndrome.

  • The presence of polyps in any number and the appearance of dark spots on the skin.

• Endoscopy: In endoscopy, a flimsy flexible tube with a camera and a light are inserted into the upper gastrointestinal tract, and the stomach and intestines are accessed. The internal view of the organs is visible on a screen outside. This helps the physician get a clear picture of any abnormalities present.

• Genetic Testing: Genetic testing reveals the presence of any mutated genes that cause this condition.

• X-Rays: X-ray is an imaging study that uses radio waves to capture images of bony structures and surrounding tissues.

• Wireless Capsule Endoscopy: In wireless capsule endoscopy, a small capsule containing a tiny camera is attached to view the internal organs. The capsule is made to swallow, and the interior view of the organ is viewed on a screen as the capsule moves along the stomach and the intestinal tract.

• Colonoscopy: A colonoscopy is a procedure where a thin, compressible tube-like structure is inserted through the rectum to view any abnormalities in the colon (part of the large intestine).

• Magnetic Resonance Imaging (MRI) Enteroclysis: This imaging technique uses a high-frequency sound wave in a magnetic field to obtain pictures of the internal structures. A fluid fills the stomach, highlighting the small intestine while performing this technique. It provides a detailed view of the targeted organ, neighboring structures, and tissues.

• Computed Tomography (CT) Oral Contrast: A contrast medium like barium salt is allowed for the patient to consume before performing the procedure. Barium salt is a white chalky substance that coats the intestinal tract after ingestion and highlights the targeted organ. This gives a clear image and helps detect abnormalities.

• Double-Balloon Enteroscopy: This imaging technique is performed by inserting a particular instrument of two tubes inserted into one another. These tubes are inserted into the mouth or the rectum to access the small intestine and view for any abnormalities. These procedures are chosen if the small intestine is not accessible through any other methods.

How Is Peutz-Jeghers Syndrome Treated?

There is no specific treatment for Peutz-Jeghers syndrome.

• The polyps in the intestine can be removed through colonoscopy.

• The polyps in the stomach can be surgically removed.

• Lifelong surveillance of the vital organs is mandatory to check for cancer formation or any secondary problems associated with the polyp.

• Gynecologic and breast examinations are mandatory every two years.

• A mammogram should be scheduled annually.

• Testicular examinations for men should be performed every two years.

What Are the Complications of Peutz-Jeghers Syndrome?

The chances of polyps turning into cancer are high in Peutz-Jeghers syndrome, and the development of cancer in other organs is also high.

• The risk of developing breast cancer is 30 % to 50 %.

• The risk of developing colorectal cancer is 40 %.

• The risk of developing pancreatic cancer is 10 % to 35 %.

• The risk of stomach cancer is 30 %.

• The risk of ovarian cancer is 20 %.

• The risk of lung cancer is 15 %.

• The risk of small intestine cancer is 13 %.

• The risk of cervical adenoma malignum cancer is 10 %.

• The risk of uterine cancer is less than 10 %.

• The risk of testicular cancer is less than 10 %.

• The risk of esophageal cancer is 2 %.

How to Prevent Peutz-Jeghers Syndrome?

Peutz-Jeghers syndrome is a genetic disorder and cannot be prevented. However, the risk of the polyp turning into cancer, cancer development, or secondary problems caused by the polyps can be monitored regularly by following specific screening protocols.

• Mammogram: A mammogram should be performed every two to three years at the beginning of age 20 and yearly after that at the beginning of 40. A mammogram is an x-ray image of the breasts.

• Endoscopy and Colonoscopy: It should be performed at the age of eight. If polyps are present, endoscopy should be repeated every two to three years. If no polyps are seen at the age of eight, it should be repeated at 18 years and every two to three years after that.

• Endoscopic Ultrasound and Pancreatic MRI (Magnetic Resonance Imaging): These imaging techniques should be performed at the age of 30 to 35 years or ten years younger than the pancreatic cancer diagnosis in the youngest person in the family or whichever appears early.

• Testicular Examination: A testicular examination should be performed on men right from childhood to figure out any abnormalities.

• Testicular Ultrasound: Testicular ultrasound is performed by moving the probe-like structure called the transducer over the scrotum to check for abnormalities.

• Pap (Papanicolaou Test), Ultrasound, and Biopsy: These screening tests should be done every year starting from the age of 25 in females with the Peutz-Jeghers syndrome. A Pap smear is a screening test to check for cervical cancer in females. In addition, a sample of the fluid from the cervix is obtained to check for any pathological abnormalities. Transvaginal ultrasound is an imaging study that uses a high-frequency sound wave to capture images of the cervix, uterus, pelvic area, and ovaries. A probe-like device called a transducer is inserted into the vagina, through which the ultrasound waves are transmitted, the female reproductive organs are viewed, and the images are captured.

A biopsy is a procedure where tiny tissues are removed from the uterus (female reproductive organ) to view any pathological changes on a microscopic level.

Conclusion:

The Peutz-Jeghers syndrome is a genetic disorder inherited from one of the parents. It causes the formation of polyps in the stomach and the intestine. It also increases the risk of cancer development in various body organs. And it causes dark-color spots on the face and develops symptoms like stomach pain, vomiting, diarrhea, rectal bleeding, etc. It is often found with clinical signs, genetic tests, and a few imaging studies. Though peutz-jeghers syndrome does not have a specific treatment, a symptomatic approach by removing the polyps in the colon and stomach is preferred. Since they have a high risk of turning into cancer or cancer development in many body parts, regular screenings and follow-ups are recommended. Though this is a severe type of genetic disorder, annual screening tests will help monitor the condition and help prevent cancer transformation and help start the treatment if cancer is detected early.