Scientific curiosity that changed the lives of endometriosis patients. “It’s a Byzantine disease”

Scientists from the Medical University of Warsaw have proven that science is a “tool” that can revolutionize not only the reality around us, but also change the lives of millions of people. They developed a pioneering test for endometriosis. Why is this discovery so special? How has the situation of women in Poland changed thanks to it? These and other questions are answered by Dr. biologist. Ilona Kalaszczyńska and prof. Ph.D. n. med. Jacek Malejczyk, scientists who worked on the breakthrough invention.

Curiosity is the first step to breakthrough discoveries

It is impossible to tell the story of any pioneering discovery without asking about its origins. They say that necessity is the mother of invention. That’s true. However, the endometriosis test developed by scientists from the Medical University of Warsaw has another very important “parent” – curiosity. Prof. mentions it in an interview with “Wprost”. Ph.D. n. med. Jacek Malejczyk.

– I became interested in endometriosis many years ago thanks to my friend, Professor Roszkowski, who once conducted research related to endometriosis at our facility. I was very interested in this matter. And I like such challenges. Problems that cannot be solved with a few simple and clear answers. Endometriosis is certainly one of them. It is an extremely complex disease that, despite the passage of time, still remains something of a mystery – notes the scientist.

At the same time, he emphasizes that science cannot exist in isolation from human affairs, and its primary goal should always be to solve problems that plague humanity. In other words, science must serve man and strive for his good. If it does not do this, it loses its basic function and becomes useless.

Endometriosis has been swept under the rug for years

Endometriosis is estimated to affect 6-10 percent of women in the general population. These numbers – as Professor Malejczyk emphasizes – do not actually reflect the actual situation. Many patients do not know that they suffer from this disease, especially when its symptoms are not severe. It is also worth noting that the symptoms of endometriosis are often quite non-specific and can be attributed to many different diseases. These include symptoms such as menstrual cycle disorders, difficulties getting pregnant, heavy and painful bleeding, or pain in the pelvic area, back or lower abdomen. All these factors make the diagnosis difficult. Until now, the only method to diagnose the disease was surgery.

– The symptoms of endometriosis have been known for a long time, but for a very long time they were ignored by doctors who believed that this type of ailments were typical for women and nothing could be done about it. This is the “beauty” of women. Meanwhile, it must be clearly stated that endometriosis is not a “beauty” of women, but a condition that must be dealt with. And that’s what it’s all about, says Professor Malejczyk.

The test that revolutionized the diagnosis of endometriosis

An extremely important step that brings scientists closer to “taming” endometriosis is the invention of a test that allows for quick and effective diagnosis of the disease. This is the first such sensitive and precise “tool” for diagnosing this insidious disease. What is the whole procedure? To answer the question, it is necessary to mention the potential causes of endometriosis. It is assumed that in most cases the disease is caused by the so-called retrograde menstruation. In every woman, menstrual blood together with endometrial tissues are excreted outside the body. At the same time, part of this secretion flows back into the body cavities, where it is eliminated, among others, by cells of the immune system.

– In patients suffering from endometriosis, this mechanism works incorrectly. The body is unable to eliminate “retracted” cells. As a result, they survive and create disease outbreaks. Then we can assume, and we followed this lead, that the cause of endometriosis lies in the endometrial cells. For many years, there was no difference in the structure of endometrial cells in sick and healthy women. However, it turns out that endometrial cells in women with endometriosis show increased expression of the FUT4 enzyme. Our test allows us to detect the expression of the gene encoding this enzyme – explains Professor Malejczyk.

All you need to do is perform a biopsy of the uterine mucosa. It is a relatively simple and minimally invasive procedure. The gynecologist inserts a thin, flexible tool resembling a pipette or syringe into the endometrium and collects diagnostic material for testing. This method of obtaining endometrium is used, among others, in the diagnosis of cancer and hormonal disorders. The procedure itself – as emphasized by Dr. Ilona Kalaszczyńska – is generally not associated with much pain or discomfort (but this is an individual matter).

– My personal feeling was comparable to taking a sample for a cytological test. However, these are very individual issues. Usually, collection is well tolerated and may be accompanied by slight cramping and spotting. It does not require anesthesia, and the woman can return to her daily activities immediately after taking the biopsy, notes Dr. Kalaszczyńska.

Patients of reproductive age with symptoms indicating the presence of this disease (e.g. heavy and irregular bleeding, pain) are eligible for diagnostic testing for endometriosis.

– The test has diagnostic value if the sample was taken after ovulation, i.e. in the second half of the menstrual cycle. If the menstrual cycle is longer or shorter, it is best to consult a gynecologist who will determine the optimal date for the examination. Ideally, it would be the first week after ovulation. Biopsy cannot be performed in patients undergoing hormone therapy. The test can be performed 3 months after discontinuing therapy, if so recommended by the doctor, adds Dr. Ilona Kalaszczyńska.

After obtaining endometrial samples, the gynecologist transfers them to an appropriate vessel and sends them to the diagnostic laboratory, where the biological material is processed and analyzed. The entire procedure takes a maximum of 48 hours.

– Our test allows us to identify endometriosis. This helps doctors know what to treat. It is very important. So far, endometriosis treatment has been empirical. The patient was receiving medications. If the proposed measures did not help her, other solutions were sought. Diagnostics for endometriosis allows us to narrow down the therapeutic procedures and implement more effective treatment methods – emphasizes Professor Malejczyk.

The endometriosis test developed by scientists from the Medical University of Warsaw has been available on the market since May 2023. Doctors are already using it. The exact number of women who underwent the test is not yet known. A certain limitation when it comes to the availability of the test is its relatively high price.

– We really wanted the intellectual property to remain in our hands, and in Poland, hence the decision to bootstrap, i.e. financing the company from our own funds, without the participation of external capital, and basing its activities on the greatest possible involvement of shareholders. Each of us contributed specific knowledge and skills to the company, thanks to which we efficiently designed, validated and implemented the test. It didn’t come easy. It required many sacrifices. However, we believe in the value of this test and we have great motivation to drive progress in the diagnosis of endometriosis, emphasizes Dr. Ilona Kalaszczyńska.

Possible extension of the use of the endometriosis test

– It would be a good idea, I say this very shyly, to use our test in screening diagnostics, for example in women with genetic predisposition. If the disease is identified early, it has a greater chance of treatment. Our test detects the disease at an early stage of development, when there are no obvious symptoms yet, emphasizes Professor Malejczyk.

Endometriosis is partly a genetic disease. The probability of the disease developing in the daughter of a woman who struggles with this health problem is very high. It should be noted, however, that although several genes associated with endometriosis have been discovered, there is no “hard” scientific evidence for the involvement of a genetic factor in the pathogenesis of this disease.

Endometriosis is not yet well understood

Prof. Ph.D. n. med. Jacek Malejczyk emphasizes that he has not yet said the last word when it comes to endometriosis testing. In his opinion, much remains to be discovered in this case. It is not known what biological consequences the expression of the FUT4 enzyme has. The way it works is also unknown.

– My team has made a significant contribution to the development of knowledge about endometriosis. We were among the first to demonstrate that this disease is accompanied by immune system disorders. We are also looking for other factors that influence the occurrence of endometriosis. We will soon say the last word on this matter. Endometriosis is a Byzantine disease, extremely complex, but at the same time very interesting. That’s why we deal with it with such passion – sums up Professor Malejczyk.

*Prof. Ph.D. n. med. Jacek Malejczyk – head of the Department and Department of Histology and Embryology of the Biostructure Center of the Medical University of Warsaw. He has over 100 publications in various scientific journals. He conducts research in the field of cell biology, cancer biology, histology and immunology. He has been dealing with endometriosis for over 20 years.

*PhD in biology Ilona Kalaszczyńska – graduate of the Faculty of Biology at the University of Warsaw. She completed her doctoral thesis at the Dana-Farber Cancer Institute, Harvard Medical School in Boston. He has been working at the Department and Department of Histology and Embryology at the Medical University of Warsaw for 12 years. He has been participating in application projects for many years, both at the university and beyond. Gains experience in the development and implementation of medical devices.