The Peitz-Jegers syndrome - Turena: description, symptoms and treatment

The Peits-Egersa-Turena syndrome is a rare genetic disorder caused by a mutation of the STK 11 gene of the 19th chromosome. The transmission type is autosomal dominant.

History

In 1921, the case of the disease, now known as the Peitz-Turen-Egers syndrome, was first described. The description was made by the Dutch therapist Johannes Peitz, who studied the syndrome on the example of the Dutch family. In 1949, his scientific research was supplemented by American physician Harold Jägers.

Symptomatics

Peitsa-Jegers syndrome is characterized by growth in the gastrointestinal tract of hamartomic polyps (hence the other name for this disease is hamartomic polyposis). They are most often found in the small or large intestine, somewhat less frequently in the stomach and rectum. At first polyps do not make themselves felt, but as they grow, constipation, bloating, rectal bleeding, pressing pain in the abdomen. About half of patients experience complications in the form of intestinal obstruction. Hidden bleeding is dangerous because it can lead to anemia and, as a result, general weakness, dizziness, decreased efficiency. Patients do not immediately pay attention to the characteristic symptoms of the disease - frequent diarrhea and abdominal pain, since this can be a sign of many other gastrointestinal diseases. But the Peits-Egers syndrome can lead to extremely serious consequences in the absence of treatment, so do not hesitate to visit a specialist.

Pigmented spots on the skin-mucous membranes (lips, palms, feet, mucous eyes) also indicate the probable presence of the Peits-Egers syndrome.

Spots appear at an early age, sometimes in infants. They are flat, dark brown, ranging in size from 1 to 5 mm. Over time, spots on the lips can brighten and disappear, but on the mucous mouth they remain forever. This is an important symptom in diagnosis, since 98% of patients with Peits-Egers syndrome have pigmentation on the mucous membranes.

Since the Peits-Egers-Turen syndrome is a genetic disease, the specialist must take into account the medical history of all members of the family when making the diagnosis. If one of them suffered from this disease, then all his relatives have a mutated gene.

Diagnostics

Diagnose the Peits-Egers syndrome with a biopsy. If a hamartom component is found in the analyzed polyp part, then this is a typical symptom for the disease. Polyps with a size of 1 to 5 mm usually do not interfere with the normal functioning of the gastrointestinal tract. But as they grow, they can lead to bleeding, because build-up, the size of which is more than 1 cm, must be removed. Polyps are characterized by moderate growth, they can be either multiple or single. With multiple treatment is much more difficult. They can not be removed once, because a gentle diet is used, as well as drug therapy aimed at slowing the growth of tumors.

Other important diagnostic criteria are heredity and pigmentation of the mucosa. Since polyps are found in patients older than 10 years, for children pigmentation on mucous membranes is the main feature when making a diagnosis. Petzsa - Jegers syndrome is also quite often accompanied by McCune-Albright syndrome (early sexual development). If a child has earlier sexual development, the probability of developing a hamartomic polyposis is quite high.

Risk of Oncology

Patients with Peits-Egers syndrome have a significantly higher risk of developing gastrointestinal cancer than in healthy people. More often oncology affects the large intestine, small intestine and pancreas. Women often have oncology of the breast (45% of cases). It is in the high likelihood of cancer and is the danger of the disease, Peitsa-Jegers syndrome needs to be controlled with the help of several clinical procedures.

Given the increased risk of oncology, all patients should undergo a radiograph of the small intestine approximately every 2 years.

Gastroscopy and colonoscopy will help the attending physician to monitor the state of the stomach and intestines, as well as monitor the size of the polyps. Even with a successful operation to remove the polyp, the probability of recurrence is high, because these examinations are absolutely necessary.

Women of 25 years must undergo a mammogram every year to notice an oncology at an early stage.

In the diagnosis of cancer, an important role is played by the study of the presence of carcinoembryonic antigen in the blood. It is a chemical substance produced in intestinal cancer, oncology of the breast or lung.

It is also important to determine other cancer antigens (they are also tumor antigens) - substances produced in cancer-affected cells of any organ. Their nature depends on the location of the tumor, which is why these substances play an important role in diagnosis.

The majority of Patients-Egers syndrome do not survive to 60 years, dying of pancreatic cancer (11%), stomach (57%), intestines (85%), breast cancer (45%). The risk of oncology of the lungs, testicles, cervix, and ovaries is also slightly increased. If oncology is detected at a late stage, it leads to death. That is why timely diagnosis is so important.

Treatment

Despite the fact that as early as 1921, Peitz described the Peits-Egers-Turen syndrome, the symptoms and treatment of this disease have not been sufficiently studied. At the moment, complex treatment of this disease has not been developed. Since hundreds of polyps grow in the intestine with a syndrome, it is impossible to prevent them prophylactically because of the high risk of such surgery. Because patients with the Peits syndrome - Egersa during a lifetime suffer a lot of surgical interventions to remove polyps, when they reach critical dimensions.

The result

Although it is not possible to cure completely of this disease at the moment, drug therapy will significantly slow down the growth of polyps, normalize the work of the intestines and stomach. Diagnosis of cancer at an early stage also increases the chance of recovery after removal of the tumor.