Symptoms: Do They Indicate Peutz-Jeghers Syndrome? - Gastroenterology and Hepatology

Colorectal polyp

Hello Doctor: I have had irregular bowel movements since childhood and my gastrointestinal health has not been great.
About five or six years ago, I noticed a dark spot about 0.3 cm in size on the left lower lip.
In recent years, my bowel movements have been a mix of occasional constipation and diarrhea, but overall, they have been relatively smooth.
I have experienced internal hemorrhoids once.
After bowel movements, I have noticed blood on the toilet paper about two or three times, and occasionally some mucus, but not frequently.
My weight has not decreased, so I have not paid much attention to the spot on my lip.
However, in the past six months, my bowel movements have varied in size, with softer stools being more common, but my weight has remained stable, and there has been no blood in the stool.
Recently, in addition to the original dark spot, I have noticed a small black dot nearby.
I researched online and found that it could be related to Peutz-Jeghers syndrome.
I am a bit worried about the possibility of developing polyps or colorectal cancer.
Do my symptoms resemble Peutz-Jeghers syndrome? Should I schedule a colonoscopy or see a dermatologist? I would appreciate your guidance.
Thank you.

Yinsu, 30~39 year old female. Ask Date: 2019/10/14

Dr. Chen Shidian reply Gastroenterology and Hepatology

You can visit the gastroenterology outpatient clinic for confirmation.

Reply Date: 2019/10/14

More Info

Peutz-Jeghers syndrome (PJS) is a genetic condition characterized by the development of hamartomatous polyps in the gastrointestinal tract and distinctive mucocutaneous pigmentation. The syndrome is caused by mutations in the STK11 gene, which is a tumor suppressor gene. Individuals with PJS are at an increased risk for various types of cancer, including gastrointestinal cancers, breast cancer, and gynecological cancers.

Symptoms of Peutz-Jeghers Syndrome
1. Gastrointestinal Polyps: The most significant feature of PJS is the presence of polyps, particularly in the small intestine. These polyps can lead to complications such as obstruction or bleeding. Symptoms may include abdominal pain, nausea, vomiting, and changes in bowel habits.

2. Mucocutaneous Pigmentation: Patients often exhibit dark blue or brown spots on the skin, particularly around the lips, mouth, and other mucosal surfaces. These spots typically appear during childhood or adolescence and can be a key indicator of the syndrome.

3. Bowel Symptoms: As you mentioned, individuals with PJS may experience alternating constipation and diarrhea, which can be attributed to the presence of polyps or other gastrointestinal issues. Blood in the stool, mucus, and changes in stool caliber (such as the alternating thickness of stools) can also occur.

4. Increased Cancer Risk: Individuals with PJS have a significantly higher risk of developing various cancers, particularly in the gastrointestinal tract, pancreas, breast, and reproductive organs. Regular screening and surveillance are crucial for early detection.

Diagnosis and Management
Given your symptoms, including the pigmentation on your lip and gastrointestinal issues, it is advisable to consider the possibility of Peutz-Jeghers syndrome. The presence of mucocutaneous pigmentation, especially in conjunction with gastrointestinal symptoms, warrants further investigation.

1. Genetic Testing: If PJS is suspected, genetic testing for mutations in the STK11 gene can confirm the diagnosis. This is particularly important for family planning and understanding cancer risks.

2. Colonoscopy: Given your history of gastrointestinal symptoms, including changes in bowel habits and the presence of blood, a colonoscopy is recommended. This procedure allows for direct visualization of the colon and rectum and the opportunity to biopsy any suspicious lesions.

3. Regular Surveillance: For individuals diagnosed with PJS, regular surveillance is essential. This includes periodic endoscopic evaluations to monitor for polyps and potential malignancies, as well as imaging studies to assess for other cancers.

4. Multidisciplinary Approach: Management of PJS often involves a team of healthcare providers, including gastroenterologists, geneticists, and oncologists, to provide comprehensive care and surveillance.

Conclusion
In summary, your symptoms, particularly the pigmentation on your lip and gastrointestinal issues, could be indicative of Peutz-Jeghers syndrome. It is important to consult with a healthcare provider who can evaluate your symptoms, recommend appropriate diagnostic tests, and develop a management plan tailored to your needs. Early detection and regular monitoring are key to managing the risks associated with this syndrome effectively.

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