Summary about Disease
Peutz-Jeghers Syndrome (PJS) is a rare, inherited disorder characterized by the development of benign growths called hamartomatous polyps in the gastrointestinal (GI) tract, particularly the small intestine. It's also marked by the presence of dark blue or brown freckle-like spots on the skin and mucous membranes (such as inside the mouth, nose, and around the eyes and anus). People with PJS have an increased risk of developing certain cancers, including cancers of the GI tract, breast, lung, pancreas, and others.
Symptoms
Dark blue or brown spots (pigmentation) on the skin and mucous membranes (mouth, lips, fingers, toes, around the eyes and nostrils, and anus). These spots often fade with age, except for those inside the mouth.
Abdominal pain, often severe and intermittent, due to bowel obstruction caused by polyps (intussusception).
Rectal bleeding, leading to anemia.
Nausea and vomiting.
Diarrhea or constipation.
Polyps in the small intestine, colon, stomach, and rarely, the esophagus.
Anemia, caused by chronic bleeding from the polyps.
Causes
PJS is caused by a mutation in the STK11 gene (also known as *LKB1*). This gene provides instructions for making a protein that acts as a tumor suppressor. Mutations in the *STK11* gene disrupt the protein's function, leading to uncontrolled cell growth and the formation of polyps. PJS is usually inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to cause the disorder. However, about 25-50% of cases occur as a result of a new (de novo) mutation in the gene.
Medicine Used
4. Medicine used There is no specific medication to cure PJS. Treatment focuses on managing symptoms and preventing complications.
Iron supplementation, to combat anemia due to blood loss.
Pain management medications for abdominal discomfort.
Hormonal therapies might be used to address hormonal imbalances or tumors.
Sirolimus and other mTOR inhibitors are being investigated for their potential to reduce polyp growth and cancer risk, but their role is not yet fully established.
Is Communicable
No, Peutz-Jeghers Syndrome is not communicable. It is a genetic disorder caused by a gene mutation and cannot be spread from person to person.
Precautions
Regular endoscopic surveillance (colonoscopies, upper endoscopies, and video capsule endoscopy) to detect and remove polyps, thus reducing the risk of bowel obstruction, bleeding, and cancer. The recommended frequency and age to begin these screenings are determined by a doctor.
Close monitoring for signs of cancer, including regular physical exams and imaging studies.
Genetic counseling for individuals with PJS and their families.
Prompt medical attention for abdominal pain, bleeding, or other symptoms.
How long does an outbreak last?
PJS is not an "outbreak" situation. It is a chronic condition. The symptoms associated with PJS, such as abdominal pain or bleeding, can be intermittent and may be triggered by specific events like polyp growth or obstruction. These acute episodes can last for a few hours to several days, but the underlying condition is lifelong.
How is it diagnosed?
Clinical evaluation: Physical exam noting the characteristic skin and mucosal pigmentation, along with a review of the patient's medical history and family history.
Upper endoscopy and colonoscopy: Visual inspection of the gastrointestinal tract to detect polyps. Biopsies of polyps can be taken for microscopic examination.
Video capsule endoscopy: A small capsule containing a camera is swallowed and takes pictures as it passes through the small intestine, which is difficult to access with standard endoscopy.
Barium studies/CT scans/MRI: Imaging tests to visualize the gastrointestinal tract and identify polyps or other abnormalities.
Genetic testing: Analysis of the STK11 gene to identify mutations. This is the definitive diagnostic test.
Timeline of Symptoms
9. Timeline of symptoms
Early childhood: Pigmented spots often appear in infancy or early childhood.
Childhood/Adolescence: Polyps typically develop and cause symptoms like abdominal pain, bleeding, or bowel obstruction.
Adulthood: Increased risk of developing various cancers throughout life, starting in young adulthood. Lifelong surveillance is critical.
Important Considerations
PJS is a lifelong condition requiring ongoing medical management.
Individuals with PJS have a significantly increased risk of cancer, necessitating regular screening.
Genetic counseling and testing are important for families with PJS to assess the risk of inheriting or passing on the condition.
Surgical intervention may be necessary to remove large or problematic polyps.
Maintaining open communication with a healthcare team experienced in managing PJS is essential for optimal care.