Peutz-Jeghers Syndrome

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Understanding Peutz-Jeghers Syndrome

What is Peutz-Jeghers Syndrome?

Peutz-Jeghers Syndrome (PJS) is a rare genetic disorder characterized by the development of non-cancerous growths called hamartomatous polyps in the gastrointestinal tract and distinct pigmented spots on the skin, especially around the mouth, lips, and fingers. PJS increases the risk of certain cancers, particularly those of the gastrointestinal system, pancreas, breast, and reproductive organs. It is caused by mutations in the STK11 (LKB1) gene and is inherited in an autosomal dominant pattern.

Symptoms of Peutz-Jeghers Syndrome

The hallmark features of PJS include gastrointestinal symptoms caused by polyps and characteristic dark spots on the skin and mucous membranes. Polyps can lead to abdominal pain, bowel obstruction, or intussusception (when one part of the intestine slides into another). Other symptoms may include rectal bleeding and anemia due to chronic blood loss.

Consult with Dr. Zaar

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FAQs

What causes Peutz-Jeghers Syndrome?
PJS is caused by mutations in the STK11 gene, which plays a critical role in regulating cell growth and preventing tumors. In most cases, the mutation is inherited from a parent, but it can also occur spontaneously.

How is Peutz-Jeghers Syndrome diagnosed?
Diagnosis is based on clinical features, family history, and genetic testing to identify mutations in the STK11 gene. Endoscopic and imaging studies may be used to detect polyps in the gastrointestinal tract.

What are the complications of PJS?
Complications include bowel obstruction, chronic blood loss leading to anemia, and an increased lifetime risk of cancers such as gastrointestinal, pancreatic, breast, ovarian, and testicular cancers.

Is Peutz-Jeghers Syndrome hereditary?
Yes, PJS is inherited in an autosomal dominant manner, meaning a person with the mutation has a 50% chance of passing it to their children.

What treatments are available for Peutz-Jeghers Syndrome?
Treatment focuses on managing symptoms, monitoring for complications, and reducing cancer risk. This includes regular endoscopic removal of polyps, surveillance for cancer, and possibly prophylactic surgeries in high-risk cases.

Can Peutz-Jeghers Syndrome be cured?
There is no cure for PJS, but its symptoms and complications can be effectively managed with regular medical care and monitoring.

How often should screening be done for people with PJS?
Screening protocols include regular endoscopies and imaging tests starting in childhood to monitor for polyps and early signs of cancer. The frequency depends on the patient’s age and clinical findings.

Are the skin spots in PJS harmful?
The pigmented spots are not harmful and usually fade with age. They are primarily a diagnostic clue for the syndrome.

What lifestyle changes can help manage Peutz-Jeghers Syndrome?
Maintaining a healthy diet, avoiding smoking, and regular follow-ups with healthcare providers are essential. Genetic counseling can also provide guidance for family planning.

When should someone with PJS see a doctor?
People with PJS should see a doctor if they experience unexplained abdominal pain, rectal bleeding, anemia, or symptoms of bowel obstruction. Regular check-ups are also critical to manage the syndrome effectively.