Peutz–Jeghers syndrome

Peutz–Jeghers syndrome (PJS) is a genetic disorder that causes gastrointestinal polyps and pigmented macules on the lips and oral mucosa. It is named after the two doctors, Jan Peutz and Harold Jeghers, who first described the condition.

Signs and Symptoms

The most common symptoms of PJS are abdominal pain, rectal bleeding, and anemia. These symptoms are often caused by intestinal obstruction due to the polyps. The pigmented macules on the lips and oral mucosa are usually present from birth or early childhood.

Causes

PJS is caused by mutations in the STK11 gene. This gene provides instructions for making an enzyme that helps regulate cell growth and division. Mutations in the STK11 gene disrupt the enzyme's function, leading to the formation of polyps and other features of PJS.

Diagnosis

The diagnosis of PJS is based on clinical findings, family history, and genetic testing. The World Health Organization criteria for the diagnosis of PJS includes any one of the following:

• Three or more Peutz-Jeghers type polyps of the small intestine.
• Any number of Peutz-Jeghers type polyps of the small intestine with a family history of PJS.
• Characteristic mucocutaneous pigmentation with a family history of PJS.

Treatment

There is no cure for PJS, but the symptoms can be managed with regular monitoring and treatment of polyps. This often involves endoscopy to remove polyps and prevent complications. Genetic counseling may also be beneficial for individuals with PJS and their families.

Prognosis

The prognosis for individuals with PJS is generally good, but they have an increased risk of developing certain types of cancer, including gastrointestinal cancer, breast cancer, and ovarian cancer. Regular monitoring and early detection of these cancers can improve the prognosis.

See Also

• Genetic disorders
• Gastrointestinal polyps
• STK11

External Links

• WikiMD: Peutz–Jeghers syndrome

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