Definition

What is Peutz–Jeghers syndrome?

Peutz–Jeghers syndrome (often abbreviated PJS) is an autosomal dominant genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa (melanosis). This syndrome can be classed as one of various hereditary intestinal polyposis syndromes and one of various hamartomatous polyposis syndromes.  These polyps occur most often in the small intestine but also occur in the stomach and large intestine. Affected individuals also have dark skin discoloration, especially around the eyes, nostrils, mucous membranes of the mouth, perianal area and inside the mouth. Affected individuals have an increased risk for intestinal and other cancers.

How common is Peutz–Jeghers syndrome?

Peutz Jeghers syndrome is a rare disorder that affects males and females in equal numbers and can occur in any racial or ethnic group. The birth prevalence for Peutz–Jeghers syndrome is estimated to be between 1/25,000 and 1/280,000.

However, it can be managed by reducing your risk factors. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Peutz–Jeghers syndrome?

Peutz–Jeghers syndrome is a disease characterized by multiple benign polyps called hamartomas on the mucous lining in the gastrointestinal system. These polyps occur most often in the small intestine but also occur in the stomach and large intestine. As a result, it may cause chronic rectal bleeding, anemia and bowel collapse or obstruction.

Affected individuals also have dark skin discoloration, especially around the eyes, nostrils, mucous membranes of the mouth, perianal area and inside the mouth and on the fingers. Hyperpigmentation may fade in adolescent or adulthood.

Affected females have an increased risk for a benign ovarian tumor called SCTAT (sex cord tumors with annular tumors) for which symptoms may include irregular or heavy periods or early puberty. Affected males can develop a tumor in the testes that secretes estrogen and can lead to breast development (gynecomastia). Individuals with Peutz–Jeghers syndrome have an increased risk for intestinal and other cancers.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consulting with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Peutz–Jeghers syndrome?

It is believed that Peutz-Jeghers syndrome is an autosomal dominant genetic condition. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual.

Risk factors

What increases my risk for Peutz–Jeghers syndrome?

There are many risk factors for this condition, such as:

  • A family historyof Peutz–Jeghers syndrome
  • A mutation in the STK11/LKB1 gene

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Peutz–Jeghers syndrome diagnosed?

If your doctor suspects that you may experience this condition, a physical examination will be performed. The main criteria for clinical diagnosis are:

  • Family history
  • Mucocutaneous lesions causing patches of hyperpigmentation in the mouth and on the hands and feet

he oral pigmentations are the first on the body to appear, and thus play an important part in early diagnosis. Intraorally, they are most frequently seen on the gingiva, hard palate and inside of the cheek. The mucosa of the lower lip is almost invariably involved as well.

  • Hamartomatous polyps in the gastrointestinal tract

These are benign polyps with an extraordinarily low potential for malignancy.

Having 2 of the 3 listed clinical criteria indicates a positive diagnosis.

How is Peutz–Jeghers syndrome treated?

Regular examinations help to prevent intestinal obstruction and cancer. Visualization of the interior walls of the intestines, endoscopy is recommended and large (>1 cm) polyps should be removed during the procedure. The age to begin screening and the frequency of examinations depend on family history and symptoms.

Periodic x-rays or endoscopy should be done beginning in adolescence and throughout adulthood. At-risk women should begin clinical breast examination and mammography beginning in the twenties. At-risk men should routinely conduct a testicular examination.

Genetic counseling is recommended for individuals with Peutz–Jeghers syndrome and their family members.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Peutz–Jeghers syndrome?

Ideally, patients with Peutz-Jeghers syndrome should be followed by a multidisciplinary team that is familiar with the syndrome. The aim of the initial consultation and continued follow up is to educate the patient and family on the illness, outline a schema for continued disease surveillance, offer genetic counseling, and, if appropriate, offer genetic testing to the extended family.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: August 28, 2017 | Last Modified: August 28, 2017

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