Slang Peutz-Jeghers Syndrome

Peutz-Jeghers syndrome is a hereditary disease characterized by the appearance of polyps of the gastrointestinal tract and pigment spots. The polyps can cause complications such as bleeding, intestinal obstruction or intussusception. Those affected have an increased risk of cancer.

What is Peutz-Jeghers Syndrome?

Peutz-Jeghers syndrome is a disease in which numerous polyps of the gastrointestinal tract appear in combination with pigmented spots on the skin and mucous membranes. The disease is inherited in an autosomal dominant manner. There is a 50 percent chance that a gene carrier will pass it on to each of their children. See AbbreviationFinder for abbreviations related to Peutz-Jeghers Syndrome.

The gender is not important. The syndrome occurs as a new mutation in half of the cases without a gene carrier as a parent. The disease is associated with an increased risk of cancer. The naming is after the internists Jan Peutz and Harold Jeghers. The disease is synonymously referred to as hamartomatous polyposis intestinalis, Hutchinson-Weber-Peutz syndrome, lentiginosis polyposa Peutz or Peutz-Jeghers hamartosis.

The disease was first described by J. Hutchinson in 1896. With an estimated frequency of 1:25,000 to 1:280,000, the disease occurs rarely.


The cause of the syndrome lies in a gene mutation. The serine-threonine kinase STK 11 (also LKB 1) on chromosome 19p13.3 is affected. It is a tumor suppressor gene. If this is switched off by the mutation, there is an increased formation of tumors. The mutation of this gene could be detected in 70 percent of patients with a positive family history. In the sporadically affected, it was found in 20 to 60 percent of cases. It is assumed that the mutation of other genes also triggers the disease.

Symptoms, Ailments & Signs

In Peutz-Jeghers syndrome, pigment spots on the skin and mucous membranes are noticeable. These occur mainly on the red of the lips, on the mucous membrane of the cheeks and the skin surrounding the mouth. The skin on the nose, eyes, hands and feet can also be affected. The spots are at skin level and are up to about one centimeter in size. They can be light brown to black. The pigment spots are either already present at birth or appear in the first years of life. Over the course of life, they can lighten.

Polyps occur in the gastrointestinal tract in around 88 percent of patients. They manifest themselves between the ages of 10 and 30. Several hundred of these benign tumors can develop, which are between one and five millimeters in size. They are mainly found in the small and large intestine. The stomach and rectum are also often affected. In rare cases, polyps appear on the kidneys, lungs and bladder.

A symptom of Peutz-Jeghers syndrome is intestinal obstruction, which is mechanically caused by the polyps. Colicky abdominal pain, rectal bleeding or bloody stools can also be symptoms. These can lead to anemia. Intussusceptions are recurrent in patients with the syndrome. The small intestine folds into the large intestine.

Diagnosis & course of disease

The diagnosis is mainly based on the clinical picture of pigmented spots and polyps of the gastrointestinal tract and the family history. The clinical diagnosis can be confirmed by genetic diagnostics. Gene diagnostics can also be carried out in clinically healthy people who are first-degree relatives to an affected person.

With this procedure, according to the Genetic Diagnostics Act, accompanying genetic counseling must be offered. Additional psychotherapeutic care is recommended. Bleeding, intestinal obstruction and intussusception can be complicated and lead to death. Patients affected by intestinal polyposis have a lifetime risk of developing cancer of up to 90 percent.

Carcinomas of the gastrointestinal tract can occur as a result of the degeneration of polyps. The risk of developing tumors in the uterus, cervix, breast, ovaries, lungs, pancreas and testicles is also increased. A degeneration of the pigment spots is not known.


Due to the Peutz-Jeghers syndrome, those affected suffer from various complaints in the stomach and intestines. Polyps in particular occur, which can lead to severe pain and bleeding. The patients also suffer from an increased risk of cancer, which means that the life expectancy of the patient may also be reduced. Furthermore, the Peutz-Jeghers syndrome leads to pigment disorders, so that the patients have pigment spots on the skin.

In some cases, this can lead to inferiority complexes or reduced self-esteem. The skin itself is covered with spots, so that in many cases those affected no longer feel beautiful and are ashamed of the symptoms. Tumors occur more frequently in the intestines, which can lead to various complaints and also to an intestinal obstruction. Patients also suffer from anemia and bloody stools.

Polyps and tumors can usually be removed during a colonoscopy. There are no particular complications. However, the tumor may have spread to other regions, causing cancer to develop there as well. In this case, the life expectancy of the affected person is significantly reduced.

When should you go to the doctor?

Peutz-Jeghers syndrome should always be examined and treated by a doctor. Further complications can only be avoided by early treatment and regular examinations. Since those affected by Peutz-Jeghers syndrome also suffer from an increased risk of cancer, regular check-ups are very useful.

A doctor should be consulted for this syndrome if the patient frequently develops reddened lips and spots on the skin that do not go away on their own and appear permanently. The symptoms can also appear in the early years, so that prevention is particularly useful for children.

Peutz-Jeghers syndrome can also lead to an intestinal obstruction, so that severe abdominal pain also requires a doctor’s visit to examine it. In the case of anemia, permanent treatment is unavoidable. Peutz-Jeghers syndrome itself can be diagnosed by a general practitioner in most cases. However, the further treatment depends strongly on the exact symptoms, whereby regular check-ups are also very useful in order not to reduce the patient’s life expectancy.

Treatment & Therapy

A causal therapy is not possible. Treatment can only be symptomatic. Some polyps can bleed or degenerate. These should be removed as part of regular gastroscopy and colonoscopy. It is not possible to remove all polyps.

If there is bleeding from a polyp, this can be staunched by a colonoscopy or an operation, depending on the findings. If an operation is necessary, it may even be necessary to partially remove the bowel in complicated cases. In the case of heavy bleeding, the use of blood supplies may be necessary.

If an intussusception occurs, an operation is usually unavoidable. The part of the small intestine that tucks into the large intestine is at risk of dying. The small intestine is withdrawn from the large intestine and fixed in its anatomically correct position. If parts of the intestine have already died, they must be removed.

The intestinal obstruction also requires surgical therapy. The mechanical obstacle is thereby eliminated. Any dead parts of the intestine are also removed during this operation. Cosmetically disturbing pigment spots can be lightened or eliminated by means of laser treatment.

Outlook & forecast ana

The prospects of Peutz-Jeghers syndrome can only be assessed individually. It is an inherited gastrointestinal disease. This leads to typical hematomatous polyps. These are mainly found in the entire gastrointestinal tract.

However, Peutz-Jeghers polyps can also appear on other parts of the body. They are recognizable by a specific pigmentation. The problem is that the prognosis is difficult to assess because of the possible development of the polyps into malignant tumors.

The risks of developing cancerous growths are definitely increased. It is therefore advisable to carry out regular examinations of the gastrointestinal tract. The doctor treating you decides how often these examinations should be carried out. There is no evidence to date on which surveillance strategies are most successful. It makes sense to remove as many polyps as possible from the gastrointestinal tract. The number of necessary operations is usually high in patients with Peutz-Jeghers syndrome.

In addition, intestinal obstructions and other complications should be corrected or prevented. These can be caused by the polyps. In younger patients, it is sufficient to primarily observe the development of the polyps. In elderly patients, the malignancies must be monitored. The prognosis must be adjusted depending on the severity of possible complications from such polyps. In elderly patients, a prognosis can only be made based on the development of malignancies.


Prevention in the sense of preventing the outbreak of the disease is not possible. Gastroscopy and colonoscopy should be performed at regular intervals to avoid complications and for early detection of degenerated polyps. Screening for early detection of other cancers is also recommended.

Women should have regular pelvic exams and mammograms. Men are advised to have regular urological consultations. First-degree relatives of those affected can have genetic diagnostics carried out. This only provides information about the gene status and has no consequences for the course of the disease.


In most cases, the options for aftercare for Peutz-Jeghers syndrome are very limited. Since this is a hereditary disease, it usually cannot be completely cured, so the patient should consult a doctor at the first signs and symptoms.

As a rule, a doctor should also be consulted if you want to have children so that a genetic examination and counseling can be carried out in order to prevent the recurrence of Peutz-Jeghers syndrome in the offspring. Those affected with this syndrome are dependent on regular visits to an internist in order to carry out a colonoscopy and to detect damage or a tumor in the intestine at a very early stage.

In many cases, a surgical procedure is necessary, after which those affected should definitely rest and rest. Efforts or physical activities should be avoided in order not to unnecessarily strain the body. Most of those affected are also dependent on the help and support of their own family in their everyday lives, which can have a positive effect on the further course of Peutz-Jeghers syndrome. This disease may also reduce the life expectancy of the person affected.

You can do that yourself

People who have Peutz-Jeghers Syndrome should seek medical evaluation and treatment first because the condition is serious. Accompanying this, there are self-help measures such as a healthy lifestyle and dealing openly with the condition.

If there is a suspicion of an intestinal invagination, the emergency doctor must be called. At the same time, the patient should go for regular screening examinations so that the breasts, gastrointestinal tract and other organs can be checked for polyps. If there is already a concrete suspicion, such as pain or visible swelling, it is best to consult your family doctor immediately. Peutz-Jeghers syndrome can only be treated by a doctor, but the patient can support the treatment by examining the body for new symptoms and creating a complaints diary.

In addition, general measures help to improve well-being. In addition to sport and a healthy diet, massages and acupuncture are also possible. These measures should be discussed beforehand with the responsible doctor to avoid complications. If the symptoms get worse or return after therapy, you should see a doctor.