Peutz-Jeghers syndrome is an inherited disorder characterized by the appearance of polyps of the gastrointestinal tract and pigmented spots. The polyps can cause complications such as bleeding, intestinal obstruction, or intussusception. Affected individuals have an increased risk of cancer.
What is Peutz-Jeghers syndrome?
Peutz-Jeghers syndrome is a disorder in which numerous polyps of the gastrointestinal tract occur in combination with pigmented patches of the skin and mucous membranes. The disease is inherited in an autosomal dominant manner. It is passed from a gene carrier to each of his children with a probability of 50 percent. Gender is not a factor. The syndrome occurs as a new mutation in half of the cases without a gene carrier as a parent. The condition is associated with an increased risk of cancer. It is named after the internists Jan Peutz and Harold Jeghers. Synonymously, the disease is called hamartomatous polyposis intestinalis, Hutchinson-Weber-Peutz syndrome, lentiginosis polyposa Peutz, or Peutz-Jeghers hamartosis. The disease was first described by J. Hutchinson as early as 1896. With an estimated incidence of 1:25,000 to 1:280,000, the disease occurs rarely.
Causes
The cause of the syndrome is a gene mutation. The serine-threonine kinase STK 11 (also called LKB 1) on chromosome 19p13.3 is affected. This is a tumor suppressor gene. If this is switched off by the mutation, there is an increased development of tumors. The mutation of this gene was detected in 70 percent of patients with a positive family history. In sporadically affected individuals, it was found in 20 to 60 percent of cases. Mutation of other genes is also thought to cause the disease.
Symptoms, complaints, and signs
In Peutz-Jeghers syndrome, pigmented patches of the skin and mucous membranes are noticeable. These occur mainly on the red of the lips, the mucous membrane of the cheeks, and the skin surrounding the mouth. The skin on the nose, eyes, hands and feet may also be affected. The spots are located at the skin level and are up to approximately one centimeter in size. They can be light brown to black. The pigment spots are either present at birth or develop in the first years of life. In the course of life, they can lighten. Polyps occur in the gastrointestinal tract in approximately 88 percent of patients. They manifest themselves between the ages of 10 and 30. Several hundred of these benign tumors, which are between one and five millimeters in size, can develop. They are predominantly found in the small and large intestines. The stomach and rectum are also frequently affected. In rare cases, polyps occur on the kidney, lungs and bladder. One symptom of Peutz-Jeghers syndrome is intestinal obstruction, which is mechanically caused by the polyps. Colicky abdominal pain, rectal blood discharge or bloody stools may also be symptoms. These can lead to anemia. Repeatedly, patients with the syndrome experience intussusception. This is when the small intestine bulges into the large intestine.
Diagnosis and course of the disease
Diagnosis is mainly based on the clinical picture consisting of pigmented spots and polyps of the gastrointestinal tract and family history. The clinical diagnosis can be confirmed by genetic diagnosis. Genetic diagnostics can also be performed in clinically healthy individuals who are first-degree relatives of an affected person. According to the Genetic Diagnostics Act, this procedure must be accompanied by genetic counseling. Additional psychotherapeutic care is recommended. Bleeding, intestinal obstruction, and intussusception can be complicated and lead to death. Patients affected by intestinal polyposis have up to a 90 percent risk of developing cancer during their lifetime. Degeneration of polyps can cause carcinomas of the gastrointestinal tract. The risk of developing tumors of the uterus, cervix, breast, ovaries, lungs, pancreas and testes is also increased. Degeneration of pigmented spots is not known to occur.
Complications
Due to Peutz-Jeghers syndrome, affected individuals suffer from various complaints in the stomach and intestines. Most notably, polyps occur, which can lead to severe pain and bleeding. Likewise, patients suffer from an increased risk of cancer, so that there may also be a reduced life expectancy in the patient.Furthermore, Peutz-Jeghers syndrome leads to pigment disorders, so that patients show pigment spots on the skin. In some cases, this can result in inferiority complexes or lowered self-esteem. The skin itself is covered by patches, so that in many cases those affected no longer feel beautiful and are ashamed of their symptoms. Tumors increasingly appear in the intestines, which can lead to various complaints and further to intestinal obstruction. Patients also suffer from anemia and bloody stools. As a rule, the polyps and the tumors can be removed during a colonoscopy. No particular complications occur during this procedure. However, the tumor may have already spread to other regions, so that cancer has formed 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 physician. Only early treatment and regular examinations can prevent further complications. Since those affected by Peutz-Jeghers syndrome also suffer from an increased risk of cancer, regular preventive examinations are very useful. A doctor should be consulted for this syndrome if the patient frequently experiences reddened lips and spots on the skin that do not disappear on their own and are permanent. The symptoms can also appear in the early years, so screening is advisable, especially in children. Likewise, Peutz-Jeghers syndrome can lead to intestinal obstruction, so a visit to the doctor is also necessary to investigate in case of severe abdominal pain. In case of anemia, permanent treatment is inevitable. Peutz-Jeghers syndrome itself can be diagnosed in most cases by a general practitioner. However, further treatment depends strongly on the exact symptoms, and regular check-ups are also very useful in order not to reduce the patient’s life expectancy.
Treatment and therapy
Causal therapy is not possible. Treatment can only be symptomatic. Some polyps may cause bleeding or degenerate. These should be removed during regularly performed gastroscopies and colonoscopies. It is not possible to remove all polyps. If bleeding from a polyp occurs, it can be stopped by colonoscopy or surgery, depending on the findings. If surgery is necessary, even partial removal of the colon may be required in complicated cases. If bleeding is severe, the use of blood products may be necessary. When intussusception occurs, surgery is usually unavoidable. The part of the small intestine that bulges into the large intestine is at risk of dying. The small intestine is retracted from the colon and fixed in its anatomically correct position. If parts of the intestine are already dead, they must be removed. Intestinal obstruction also requires surgical therapy. The mechanical obstruction is removed. Any dead parts of the intestine are also removed during this operation. Cosmetically disturbing pigment spots can be lightened or removed by laser treatment.
Outlook and prognosis ana
The outlook in Peutz-Jeghers syndrome can only be evaluated on an individual basis. It is a hereditary gastrointestinal disease. In this, typical hemarthomatous polyps occur. These are predominantly found in the complete gastrointestinal tract. However, Peutz-Jeghers polyps can also occur in other parts of the body. They are recognizable by specific pigmentation. Problematically, the prognosis is difficult to assess because of the possible development of the polyps into malignant tumors. In any case, the risks of developing cancerous tumors are significantly increased. Therefore, it is recommended to perform regular examinations of the gastrointestinal tract. How often these examinations should be performed is decided by the attending physician. There is no evidence yet on which monitoring strategies are most successful. It makes sense to remove as many polyps as possible from the gastrointestinal tract. The number of operations needed 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 observe mainly the development of polyps. In older patients, the malignancies must be monitored. Depending on the severity of any complications caused by such polyps, the prognosis must be adjusted. In elderly patients, a prognosis can only be made based on the development of malignancies.
Prevention
Prevention in the sense of preventing the onset of the disease is not possible. Gastroscopy and colonoscopy should be performed at regular intervals to prevent complications and for early detection of degenerated polyps. Screenings for early detection of other cancers are also recommended. Women should have regular gynecological exams and mammograms. Men are advised to have regular urological screening. First-degree relatives of affected individuals can have genetic diagnostics performed. This only provides insight into the gene status and has no consequence for the course of the disease.
Follow-up
In most cases, the options for follow-up care in Peutz-Jeghers syndrome are very limited. Since it is a hereditary disease, it usually cannot be completely cured either, so the patient should see a doctor at the first signs and symptoms. As a rule, a doctor should also be consulted if the patient wishes to have children, so that a genetic examination and counseling can be performed to prevent the recurrence of Peutz-Jeghers syndrome in the descendants. Affected individuals with this syndrome are dependent on regular visits to an internist for colonoscopy to detect damage or tumor to the bowel at a very early stage. In many cases, surgery is necessary, after which sufferers should rest and take it easy. Effort or physical activities should be avoided in order not to put unnecessary strain on the body. Most of those affected also depend on the help and support of their own family in their daily lives, which can have a positive effect on the further course of Peutz-Jeghers syndrome. Possibly, this disease also reduces the life expectancy of the affected person.
What you can do yourself
People who have Peutz-Jeghers syndrome should first seek medical examination and treatment, as the syndrome is a serious condition. This can be accompanied by self-help measures such as a healthy lifestyle and an open approach to the condition. If intussusception is suspected, the emergency physician must be called. Accompanying this, the patient should go for regular screening examinations so that breasts, gastrointestinal tract and other organs can be examined for polyps. If there is already a concrete suspicion, for example in the case of pain or visible swellings, it is best to consult the 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 complaints and creating a complaints diary for this purpose. In addition, general measures help to improve well-being. In addition to sports and a healthy diet, massages or acupuncture can also be used. These measures should be discussed with the doctor in charge beforehand to avoid complications. If the complaints become stronger or return after therapy, a visit to the doctor is indicated.
