Peutz-Jeghers syndrome is a genetic disease whose first symptom is often unexplained skin changes. What other symptoms are there in this disease? Why is early diagnosis so important? What are the strategies for dealing with Peutz-Jeghers syndrome?

Peutz-Jeghers syndromeis a genetic disease, inherited autosomal dominantly, which means that the person with the disease is at least 50 percent likely to have a sick child.

Descriptions of the Peutz-Jeghers syndrome appeared in the literature from 1896, but its cause was not established until 1998.

Most patients have a mutation of the LKB1 suppressor gene on chromosome 19, the product of this gene is involved in cell division and is responsible for cell polarization. In the course of this ensemble, there are:

  • lentil stains
  • polyps, especially in the small intestine
  • the risk of cancer is also greater.

Peutz-Jeghers syndrome: symptoms

Lentigo spots (Latinlentigo ) appear on the skin and are pigmented marks, they are light or dark brown, less often dark blue, they are well delimited, a few millimeters in size and round or oval shape.

Lentil stains usually appear in childhood and may disappear during adolescence.

Lentil stains result from the multiplication of melanocytes (cells containing the dye) in the epidermis. In the case of Peutz-Jeghers syndrome, they are found in large numbers and are usually located around the mouth, nose, eyes, sometimes also on the cheeks, in the mouth, or on the hands and feet.

Although lentil stains are completely harmless, they are the most visible symptom of the disease.

They are the most common cause of anxiety among patients and seeking medical help, and they are the source of the diagnostic process leading to proper diagnosis.

Another characteristic feature of Peutz-Jeghers syndrome are polyps. In general terms, these structures are bulges of the gastrointestinal mucosa, this form can take on, inter alia, neoplasms, but also, for example, in inflammatory processes.

In the course of the Peutz-Jeghers syndrome we deal withso-called hamartomatic polyps. This rather complicated name means a noncancerous tumor which is a developmental disorder.

Characteristically, these polyps are made of mature tissues that occur normally in the body, but appear in the wrong place or are chaotically arranged, e.g. lung tissue appears in a polyp in the intestine.

Hamartomatic polyps in the course of Peutz-Jeghers syndrome are most often found in the small intestine, mainly in the jejunum, but they can appear in any part of the gastrointestinal tract: in the colon, stomach and rectum.

A characteristic feature of their structure is a long stem. In general, the presence of polyps is asymptomatic and harmless. Sometimes, however, they carry the risk of obstruction, as they can completely block the lumen of the digestive tract, causing the so-called intussusception.

It also happens that they self-amputate, or "break", which in turn may cause gastrointestinal bleeding and anemia.

In addition, the intestinal symptoms that may occur in Peutz-Jeghers syndrome are constipation and abdominal pain.

Tumors in Peutz-Jeghers syndrome

The main problem with this disease is the fact that numerous polyps can transform and cause cancer, it is estimated that approx. 50% (some sources estimate up to 90%) of patients with this diagnosis will develop cancer, most often of the intestines, although breast tumors, lung cancer, stomach cancer, pancreatic cancer, ovarian cancer or uterine cancer are also more common.

Some tumors can be hormonally active and cause menstrual irregularities, male gynecomastia, and premature puberty.

Peutz-Jeghers syndrome: diagnosis

The diagnosis is possible after all three conditions are met:

  1. the presence of the disease in the family and the way it is inherited - this is determined on the basis of a medical interview
  2. excessive pigmentation of the skin and mucous membranes
  3. presence of polyps in the small intestine with histopathological confirmation that they are hamartomatic polyps

If a loved one is sick, diagnosis is much easier and there is no need to evaluate the polyps. However, it is always necessary to exclude other diseases that may cause similar symptoms, especially other genetic syndromes.

Peutz-Jeghers syndrome: prophylactic treatment

It is a rare disease, it is estimated that 1 in 150,000 people suffer from it, but recognizing it is very important becauseit carries a specific risk and a specific procedure.

If Peutz-Jeghers syndrome is found, high oncological vigilance is necessary due to the increased risk of cancer, therefore numerous preventive measures are taken.

Each patient should have a colonoscopy every 2-3 years starting from the age of 18, additionally gastroscopy every 2-3 years from the age of 18 and endoscopic ultrasound or computed tomography every 1-2 years after the age of 25.

Additionally, women should perform breast self-examination every month. Breast mammography or magnetic resonance imaging every six months after the age of 25, transvaginal ultrasound and CA-125 determination every year after the age of 25.

Of course, like all, also he althy, women diagnosed with Peutz-Jehgers syndrome should see their gynecologist regularly for a Pap smear.

In women after the end of the reproductive period, removal of the uterus and ovaries may be considered.

In men, it is necessary to test the testicles, and an ultrasound scan every 2 years.

All these activities are aimed at early detection and treatment of neoplasms. Sometimes prophylactic removal of intestinal polyps is also recommended in order to reduce the risk of their complications.

Peutz-Jeghers syndrome, like any genetic defect, cannot be cured, but its diagnosis is very important due to the specific clinical management of sick people.

The greatest risk associated with the disease is the occurrence of neoplasms, but regular checks allow for their early detection and treatment. Unfortunately, the sick have a very high risk of passing on the defect to their children.

Category:

Genetic diseases