Which are the symptoms of Peutz-Jeghers syndrome?

Peutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized by the development of benign polyps in the gastrointestinal tract and the presence of distinctive pigmented spots on the lips, oral mucosa, and other parts of the body. This autosomal dominant condition is caused by mutations in the STK11 gene, also known as the LKB1 gene.

Gastrointestinal symptoms:

One of the primary features of Peutz-Jeghers syndrome is the presence of polyps in the gastrointestinal tract. These polyps can occur in various parts of the digestive system, including the stomach, small intestine, colon, and rectum. The polyps are typically hamartomatous, meaning they are noncancerous growths composed of normal tissue elements but arranged in an abnormal manner. These polyps can cause a range of symptoms, including:

• Abdominal pain: Individuals with PJS may experience recurrent abdominal pain, which can be intermittent or persistent.


• Bleeding: Polyps in the gastrointestinal tract can lead to bleeding, resulting in blood in the stool or anemia due to chronic blood loss.


• Obstruction: Large polyps or multiple polyps in the intestines can cause partial or complete blockage, leading to symptoms such as cramping, bloating, and changes in bowel habits.


• Intussusception: In some cases, the polyps can cause a condition called intussusception, where a segment of the intestine telescopes into an adjacent segment, causing severe abdominal pain, vomiting, and bloody stools.

Pigmented spots:

Another characteristic feature of Peutz-Jeghers syndrome is the presence of pigmented spots on the lips, oral mucosa, and other areas of the body. These spots are known as melanotic macules and appear as well-defined, dark brown to bluish-black patches. They are typically present at birth or develop in early childhood. The pigmented spots can also occur on the face, hands, feet, genitalia, and other mucosal surfaces. While these spots are benign and do not cause any symptoms, they serve as a key diagnostic feature of PJS.

Other associated symptoms:

Peutz-Jeghers syndrome can also manifest with additional signs and symptoms that may vary among affected individuals. These include:

• Increased cancer risk: Individuals with PJS have an increased risk of developing various types of cancer, particularly in the gastrointestinal tract. This includes cancers of the colon, stomach, small intestine, pancreas, and ovaries, among others.


• Sex cord tumors: Females with PJS may develop benign tumors in the ovaries called sex cord tumors with annular tubules (SCTAT). These tumors are typically hormonally inactive but can cause complications such as infertility or precocious puberty.


• Increased risk of other tumors: PJS has also been associated with an increased risk of developing tumors outside the gastrointestinal tract, including breast cancer, lung cancer, and cervical cancer.


• Macrocephaly: Some individuals with PJS may have an enlarged head size, known as macrocephaly.


• Delayed puberty: Delayed onset of puberty may occur in both males and females with PJS.


• Intellectual disability: In rare cases, individuals with PJS may experience intellectual disability or developmental delays.

Diagnosis and management:

Diagnosing Peutz-Jeghers syndrome involves a combination of clinical evaluation, family history assessment, and genetic testing to identify mutations in the STK11 gene. Regular surveillance and screening for gastrointestinal polyps and associated cancers are crucial for individuals with PJS. This may involve periodic endoscopies, colonoscopies, and imaging studies to monitor the presence and growth of polyps. Surgical removal of symptomatic or large polyps may be necessary to alleviate symptoms and reduce the risk of complications.

Additionally, individuals with PJS should undergo regular cancer screening, including mammograms, pelvic exams, and other appropriate tests based on their individual risk factors. Genetic counseling is recommended for affected individuals and their families to understand the inheritance pattern and the potential risks to future generations.

by Diseasemaps