Peitz-Jägers-Touraine Syndrome is a rare genetic disease caused by a mutation in the STK 11 gene of the 19th chromosome. The type of transmission is autosomal dominant.
History
In 1921, a case of the disease, now known as Peitz-Touraine-Jägers syndrome, was first described. The description was made by a Dutch therapist Johannes Peitz, who investigated the syndrome using the Dutch family as an example. In 1949, his scientific research was supplemented by the American physician Harold Egers.
Symptomatology
Peitz-Jägers syndrome is characterized by proliferation of hamartomic polyps in the gastrointestinal tract (hence another name for this disease is hamartomic polyposis). They are most often found in the small or large intestine, somewhat less often in the stomach and rectum. At first, polyps do not make themselves felt, but as they grow, constipation, bloating, rectal bleeding, and pressing pain in the abdomen appear. About half of the 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, and decreased performance. Patients do not immediately pay attention to the characteristic symptoms of the disease - frequent diarrhea and abdominal pain, as this can be a sign of many other gastrointestinal diseases. But Peitz-Jägers syndrome can lead to extremely serious consequences in the absence of treatment, so you should not hesitate to visit a specialist.
Pigment spots on the skin and mucous membranes (lips, palms, feet, mucous membranes of the eyes) also indicate the likely presence of Peitz-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 they remain on the mucous membrane of the mouth forever. This is an important symptom in the diagnosis, since 98% of patients with Peitz-Jägers syndrome have pigmentation on the mucous membranes.
Since Peitz - Jägers - Touraine syndrome is a genetic disease, a specialist must take into account the medical history of all family members when making a diagnosis. If one of them suffered from this disease, then all of his relatives have a mutated gene.
Diagnostics
They diagnose Peitz-Jägers syndrome by biopsy. If a hamartoma component is found in the part of the polyp taken for analysis, then this is a symptom typical of this disease. Polyps ranging in size from 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 growths that are larger than 1 cm must be removed. Polyps are characterized by moderate growth, they can be both multiple and single. With multiple treatment is much more difficult. They can not be removed once, therefore, a sparing diet is used, as well as drug therapy aimed at slowing the growth of tumors.
Other important diagnostic criteria are heredity and mucosal pigmentation. Since polyps are found in patients older than 10 years, for children, pigmentation on the mucous membranes is the main symptom when making a diagnosis. Petz-Jägers syndrome is also quite often accompanied by McKune-Albright syndrome (early sexual development). If the child has previously had sexual development, the likelihood of developing a hamartomic polyposis is rather high.
Oncology risk
Patients with Peitz-Jägers syndrome have a significantly higher risk of gastrointestinal cancer than healthy people. Most often, oncology affects the large intestine, small intestine and pancreas. In women, breast cancer is often observed (45% of cases). It is in the high probability of the development of cancer that the danger of the disease lies; Peitz-Jägers syndrome must be controlled with the help of several clinical procedures.
Given the increased risk of developing oncology, all patients should undergo radiography of the small intestine approximately every 2 years.
Gastroscopy and colonoscopy will help the attending physician monitor the condition of the stomach and intestines, as well as monitor the size of the polyps. Even with a successful operation to remove the polyp, the likelihood of relapse is high, because these examinations are absolutely necessary.
Women from 25 years old need to undergo a mammogram every year to notice oncology at an early stage.
In the diagnosis of cancer, an important role is played by a study on the presence of a carcinoembryonic antigen in the blood. This is a chemical produced in bowel cancer, breast or lung cancer.
It is also important to identify other cancer antigens (they are also tumor antigens) - substances produced in cancerous cells of any organ. Their nature depends on the location of the tumor, which is why these substances play an important role in the diagnosis.
Most patients with Peitz-Egers syndrome do not live to be 60 years old, dying from cancer of the pancreas (11%), stomach (57%), intestines (85%), and mammary gland (45%). The risk of developing 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 Peitz-Jägers-Touraine syndrome, the symptoms and treatment of this disease have not yet been adequately studied. At the moment, a comprehensive treatment of this disease has not been developed. Since hundreds of polyps grow in the gut syndrome, it is impossible to remove them all preventatively because of the high risk of such an operation. Therefore, patients with Peitz-Jägers syndrome suffer many surgical interventions to remove polyps during their lifetime when they reach critical sizes.
Total
Although it is currently impossible to completely recover from this disease, drug therapy will significantly slow down the growth of polyps, normalize the intestines and stomach. Early diagnosis of cancer also increases the chance of cure after removal of the tumor.