Disease in the blood
What can people with rare diseases expect
About who is usually diagnosed with such diseases and what difficulties patients face on the way to maintaining health, read the TASS material.
Chronic oncohematological diseases are a fairly frequent phenomenon in themselves, but there are some among them that are classified as rare, or orphan. Rare diseases are considered only those that occur up to ten cases per 100 thousand population. It is not known for sure how many such patients live in Russia, since only those organizations in which they are treated have data about them. There is no single register, but according to calculations, based, for example, on the prevalence of these rare blood diseases in other countries, at least 10 thousand people with diagnoses such as myelofibrosis and true polycythemia should live in the Russian Federation.
Movies are rarely made about people with chronic blood diseases. Symptoms such as fatigue, weakness, pain in joints and bones, fever and weight loss, thrombosis, you will not play in the film. In addition, unlike acute diseases, the changes here will not be so fast and noticeable. However, if the correct diagnosis is not made in time and the correct treatment is not prescribed, the life expectancy of people with rare blood diseases is sharply reduced.
Diagnostic difficulties
"Acute diseases are basically similar to each other, we are talking about leukemia, pneumonia or bronchitis. Acute bronchitis is cured, there are no traces left of it. A chronic disease occurs in a person with exacerbations, there are favorable periods, and there are periods of exacerbation. Also in chronic oncohematological diseases. They can be compared in some ways with diabetes mellitus or arterial hypertension: the sugar level or pressure in these diseases must be constantly monitored. If diseases appear, they do not disappear," oncologist, hematologist of the Almazov National Medical Research Institute (NMIC) of the Ministry of Health of Russia Yelza Lomaia told TASS.
Chronic diseases of the hematopoietic system significantly complicate the life of patients.
"If cells have started to form intensively in the bone marrow, then this process is only developing further. It is based on a certain biology that we do not fully know. In some people, the rate of formation of these cells is very fast, in others it is slower, but the process itself does not stop – it needs to be held," the doctor explained.
The correct diagnosis is complicated by several factors at once. The fact is that rare oncohematological diseases, such as myelofibrosis and true polycythemia, according to world statistics, are more common in older people. And as a rule, Russians over 65 already have some diseases. The most common of them are the same as the most common non–communicable diseases in the world – cardiovascular, oncological and endocrine.
At the same time, the symptoms of chronic hematological diseases are nonspecific. Myelofibrosis and true polycythemia are characterized by increased fatigue, weakness, pain in joints and bones, thrombosis. Such symptoms are characteristic of dozens of much more common diseases, so often patients themselves do not go to the doctor for quite a long time. Not all primary care specialists, and it is there that these patients most often turn, can quickly make an accurate diagnosis.
"It happens that a chronic oncohematological disease can be suspected simply during a medical examination for blood tests and sent for consultation to a hematologist for a more detailed examination. But most often such patients come to us from other specialists with thrombosis: if a blood clot has formed in the heart – a heart attack, if in the brain – a stroke. It also happens that patients themselves complain of weakness, weight loss, joint pain. If the doctor does not perform a blood test at the same time, it will be quite difficult for him to suspect our disease, because the symptoms are nonspecific," Lomaia explained.
Dr. Mikhail Fominykh also noted that often patients with such symptoms do not always immediately go to the doctor, writing off their well-being as overwork, or attribute them to already diagnosed diseases.
Therefore, a doctor can suspect a chronic oncohematological disease only on the basis of a blood test, but the final diagnosis will be made after a bone marrow puncture. According to Lomaia, there are also such cases among rare oncohematological diseases when changes in blood tests are minimal, in which case the doctor will observe the patient for some time.
"But there are still not so many such situations. Most often, the patient gets to a hematologist, only this specialist can send for research to clarify the diagnosis – bone marrow examination and molecular genetic analyses," the doctor explained.
According to experts interviewed by TASS, almost all regions of the Russian Federation, with very rare exceptions, are already performing bone marrow studies. In isolated cases, there are either no conditions for performing this test, or qualified specialists.
"The important question is where to send this biopsy for analysis. Not all laboratories perform this research. The problem is that their specialists – morphologists, histologists – lack experience. To do this, reference laboratories are being created, a centralized system of laboratories, and meetings with doctors are being held throughout the country to increase knowledge," Lomaia explained.
The problem of the lack of the necessary qualifications for specialists does not always depend only on the level of education. When it comes to rare diseases, it is difficult to get enough experience working with such patients. Mikhail Fominykh also noted that many patients often know much more about their rare disease and symptoms than doctors. "Some of my patients were sick even before I started working as a doctor," he added.
Another problem is that molecular genetic research has not yet been charged. This applies to research not only for chronic hematological diseases, but also for many others.
"We need logistics, which still does not exist: where to send this material for research and, most importantly, who will pay for it. Neither in Moscow nor in St. Petersburg there is no billing for these analyses. So far, the patient pays for the research himself. Performing research on mutations of three genes will cost several thousand rubles," Lomaia explained.
Payment for these tests falls on the patient, since these tests are not included in the rates of the CHI. And considering that about half of the total number of patients are people over 60 years old, the need to pay for diagnostic studies becomes a serious obstacle to diagnosis.
What kind of therapy is available
Unlike diagnostics, patients do not need to pay anything for the treatment of myelofibrosis and true polycythemia. These diseases are attributed to the list of orphan diseases, the therapy of which is paid from the budget. According to experts, the national recommendations for the treatment of these diseases include almost all drugs that are currently used. In addition, the clinical guidelines will be updated in the near future.
One of the main goals of therapy today is to alleviate symptoms and, as a result, improve the quality of life. In accordance with national recommendations, treatment regimens include therapy that prevents the formation of blood clots, anti-inflammatory drugs and some specific ones indicated for use in patients with these diseases, and in some cases, a bloodletting procedure is recommended. Allogeneic bone marrow transplantation is also available to such patients. However, an innovative therapy is already emerging, which is aimed at alleviating many severe symptoms that hinder quality of life.
"Some patients have an unbearable itching of the skin, such that you can't think about anything else. Others have a sharp weight loss, enlargement of the spleen. There are innovative drugs, they are already registered and approved for use in Russia, which remove these symptoms and do it much faster than conventional therapy," Lomaia added.
As noted by Fominykh, innovative therapy allows patients to restore vital functions faster and return to normal life.
"Such therapy is sometimes better tolerated, but it's all, of course, also individual. All symptoms of diseases decrease, weight returns to normal, overall survival increases," he explained.
Why me? How long do I have left?
These are the most common questions that a doctor hears who has just reported a serious diagnosis to a patient. The causes and prognosis for patients with rare diseases, and with many common ones too, always depend on many factors. In addition, there are few patients with orphan diseases, which means that reliable data cannot be obtained.
"We can assume that in some cases myelofibrosis and polycythemia are associated with the same risk factors as other oncohematological diseases. But this is indirect data, and there is no direct confirmation for various reasons," Fominykh explained.
We are talking about factors such as smoking, alcohol abuse, poor nutrition, carcinogens, ionizing radiation, heredity and age.
"But in 95% of patients, we cannot determine what the onset of the disease may be associated with. There is no evidence that some viruses, some bacteria, other chemicals can provoke, trigger the development of this disease," adds Lomaia.
According to experts, the genetic factor plays a role in the occurrence of these diseases, but this is not a hereditary disease in the literal sense. In chronic oncohematological diseases, specific breakdowns in genes occur, but it is still impossible to reliably say why this happens and what contributes to this. Does not guarantee the development of the disease and family history. However, according to the Fomins, if close relatives had a similar diagnosis, then relatives fall into the risk group.
According to foreign registries, the life expectancy of patients after diagnosis depends on different circumstances. If the severity of symptoms is small, if there are no decompensated concomitant diseases, if there are no other risk factors, then the survival rate will be higher. For these diseases, according to statistics, in most cases it can be more than 10-13 years.
"It is possible to predict, but it will not be individualized, because statistics always talk about the general population. And there is very little data here," Fominykh added.
Answering the question about the life expectancy of a particular patient is even more difficult.
"This is only possible in Hollywood cinema," explained Fominykh. – In reality, everything depends on a very large number of factors. It depends on the patient's condition at the time of diagnosis, what concomitant pathologies he has accumulated, how his disease behaves at the moment."
Despite all the difficulties with the diagnosis, accounting and treatment of such diseases, Russia is currently working on the formation of its own registry, which will cover the maximum number of people with rare oncohematological diseases.
References:
1. Cervantes F et al. Blood, 2009;113:2895-2901.
2. Melikyan A.L., Kovrigina A.M., Subortseva I.N. et al. Clinical recommendations for the diagnosis and therapy of Ph-negative myeloproliferative diseases (polycythemia vera, essential thrombocythemia, primary myelofibrosis) (edition of 2018). Russian Journal of Hematology and Transfusiology (Gematologiya i transfuziologiya) 2018.
3. Passamonti F., Cervantes F., Vannucchi A. M. et al. Dynamic International Prognostic Scoring System (DIPSS) predicts progression to acute myeloid leukemia inprimary myelofibrosis. Blood 2010; 116:2857–2858.
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