Genetic Research Will Help Determine The Exact Therapy For Crohn's Disease In A Few Years

-  what is Crohn's disease and what are its manifestations?

Crohn's disease is an autoimmune disease that is incurable, chronic, and can lead to profound disability. Extremely socially significant disease, because when the disease unfolds, many people in the conditions of active disease, lose friends, family, work, find it difficult to have children, feel socially isolated.

Inflammation in Crohn's disease is transmural, ie. affects the entire wall of any part of the gastrointestinal tract - from the mouth to the distal end, to the anal area. It has a segment characteristic, ie. individual segments are affected, and alternation of healthy and diseased area.

The clinical picture is accompanied by abdominal pain, diarrhea, sometimes mixed with blood, weight loss, because people prefer not to eat in this situation.

It is difficult to diagnose Crohn's disease in an outpatient setting. A patient who is suspected of admission to a clinic is needed because endoscopy or colonoscopy may not always be possible to reach the affected area. The site may be located higher in the small intestine. More additional tests, including serological ones, are needed to enable a diagnosis to be made. Sometimes surgical intervention may be necessary.

The disease itself is more surprising, more severe, people with Crohn's disease are prone to fistula formation. These are openings, roughly speaking, that can be located both on the skin of the anterior abdominal wall and behind the gluteus. These openings represent the external inlet or outlet that connects to either the colon or small intestine. Sometimes such fistulas can form between two loops of the small intestine, between the small and large intestines, between the vagina and the small or large intestine. 

 - What are the current recommendations for therapy and how has the practice evolved over the years?

There is no cure for the disease. What we aim for is the longest possible periods of remission. These are longer periods in which the patient has no clinical manifestations and complications. In Crohn's disease, in order to prevent early disability of young people, treatment should be timely and begin as early as possible. 
The most modern therapy is biological medicines. This is an immunosuppressive therapy in its characteristics and for a certain period of time controls the activity of the disease. The disease comes under good control, ulcers heal, inflammation is controlled, fistulas do not form or they close slowly and complications of the disease do not develop that would affect other organs and systems.
Other ways to control are other small molecules that are registered on the market. There is a constant flow of medicines, which is logical in such deeply debilitating diseases of high social significance. 

 - What other innovations in treatment are being studied and implemented?

Fecal transplantation experiments are performed, but there is no proven effect on disease control. Success is very questionable. Large randomized trials need to prove that this approach works, is better and / or can be combined with biologic therapy. The goal is for each patient to be actually found in time and to see their doctor in order to gain trust between doctor and patient. So that people believe in the proposed therapeutic scheme and gain courage when the disease escapes the control of the proposed drugs. After a certain period of time - between 4 and 5 years, the level of inflammation itself slips away from the drug we use, and then a new treatment regimen is sought to move to another level of therapy.

 - What caused this?

The inflammatory process in this type of disease is multilayered. Cytokine control works for a period of time. At the same time, many cytokines are released during inflammation. With one drug we cannot meet this variety of cytokines, a kind of "cytokine shower". The fact that we achieve an effect within a year and a half - two, does not mean that in the third year this effect will not be exhausted. 

A new element in the therapy will be the determination of the genetic predisposition, the possibility for a patient to be sensitive to certain groups of drugs, to have an effect from them. Here I think geneticists can help in the next 5-10 years. Then, instead of jumping from drug to drug, genetic research will be able to answer the question of why a particular drug depletes its therapeutic potential so quickly in a particular person. 

 - To what extent does modern science explain the mechanism of triggering these diseases?

No one knows exactly what causes these diseases. Many elements of the environment that are part of our daily lives - stress, microorganisms, including those that are part of our microflora, immunity, genetic predispositions ... All this at a certain stage plays a crucial role and participates in unlocking inflammation. The conflict is at the level of the mucous membrane of the gastrointestinal tract. 

The bad thing is that this conflict starts to develop very early. These diseases are not unique to adults, but can be triggered in childhood. Perhaps the entry of the so-called "Fast food", pre-processed food. 

 - What are the main concerns of people related to treatment?

The most common questions people ask are their fears about the side effects of the drug, whether they will pass the disease on to their offspring if they decide to become parents - what will happen to the child in the background of the therapy they are on, too and the extent to which therapy will affect their quality of life. People expect to be able to go out with friends, to go to a restaurant, to regain their former comfort, to feel free. That is why a large number of patients prefer certain forms that have subcutaneous application, because it gives them freedom. They are not "tied" to the infusion center and one team, but can take their medication, travel, live elsewhere. 

The fear of drugs is great because immunosuppression is serious. This is an obstacle for people to believe in the good effects of drugs. However, some medications have their limitations, for example, some exclude sun exposure. There is no one formula that is valid for everyone, patients and doctors must work in a team, because these diseases are multifaceted and affect many other organs and systems. You have to work with a nutritionist, a rheumatologist, a hematologist, a nephrologist, a surgeon, a gynecologist, a specialist in reproductive medicine. The experience of some medics is not very great and this leads to the escape of our patients in neighboring countries to seek relevant specialists. Specialists in reproductive medicine also have an accumulated fear of biological therapy, and children are born with the use of other, more frightening drugs.