Low fever, night sweats, itchy skin, lack of appetite, weight loss, bone pain – it happens that we attribute it to exhaustion, stress. And these are also symptoms of a blood cancer. Unfortunately, patients go undiagnosed for years. They could be cured if the disease could be detected quickly. It would be enough if the doctor gave us a referral once a year for a morphology, but one with a manual smear. In this standard, our blood is judged by an automaton. She is far more mistaken than the man who looks at her under the microscope. This is recalled by the hematologist Dr. Tomasz Sacha, MD, on the World Rare Diseases Day on 28 February.
- There are about eight thousand rare diseases. Each of them affects no more than five out of ten thousand people. In Poland, this applies to 6-8 percent of people. They are often severe and life-threatening diseases
- Rare diseases can be extremely difficult to diagnose and can be delayed by many years. All because they concern a small number of people. Blood diseases are a significant part of them
- During the 200th Hematology Experts Forum conference, a few days ago in Warsaw, almost XNUMX hematologists from all over Poland talked about them. They admitted that treatment has made tremendous progress recently, but there is still a long way to go.
- There is no single doctor dealing with rare diseases. Patients with various diseases – the nervous system, hematopoietic system or genetic diseases are treated in various specialist centers.
Hematooncological diseases, i.e. blood cancers, concern every age group. – Even though the average age is 50 or more, I also have twenty-year-olds among my patients. Some of them are violent, such as acute myeloid leukemia. Others develop “silently” over the years, such as myelofibrosis or chronic myeloid leukemia – says Dr. Tomasz Sacha
Uncertain diagnosis
Non-specific symptoms make it extremely difficult to diagnose. Night sweats, fever, weight loss, and fatigue – often mistaken for overwork or stress, or the flu – can actually be the first symptoms of a blood cancer – such as myelofibrosis. It is one of the rarest diseases of all cancers associated with the malfunctioning of the bone marrow.
Less than one in 100 is diagnosed with myelofibrosis annually. Poles. It is not known exactly how many people in our country struggle with this difficult to diagnose and treat disease. It is estimated that currently such a diagnosis has been established in about 1000 people. Myelofibrosis can develop at any age. Approximately 10 percent of patients are diagnosed with the disease under 45 years of age.
Another rare, especially in adults, hematological disease – acute myeloid leukemia (AML), initially also does not give specific symptoms, but they are more “turbulent” and include infections that are difficult to treat, significant weakness and bruising or bleeding from nose or gums.
In turn, mastocytosis – a chronic myeloproliferative neoplasm – can occur only with skin lesions similar to urticaria or manifest as fatigue, bone pain, diarrhea and symptoms of allergy to many substances, drugs, insect stings, in extreme cases sudden drops in blood pressure and shortness of breath .
It happens that patients struggling with rare haematological diseases remain undiagnosed for years, visiting many doctors.
The key need for this group of patients is therefore related to the diagnosis itself. The sooner the disease is detected, the greater the chance of successful therapy.
– We cannot prevent blood cancers, but we can detect them early if we take the matter into our own hands. I encourage you to perform peripheral blood counts with a manual blood smear once a year, i.e. leukogram. Normal morphology (without manual smear) is not as accurate because the results are judged by the machine. On the other hand, making a smear requires a specialist to examine the blood cells under a microscope each time. In the case of an abnormal or suspicious result, the primary care physician should refer the patient to a hematologist who will assess whether further diagnostics is needed or immediately implement appropriate treatment. With a suspicious result, you should not wait for the situation to develop. A peripheral blood count with a leukogram is the basic hematology test. It costs a dozen or so zlotys and can save a life – says Dr. Sacha.
In the basic morphological examination, the parameters of individual blood cells may be incorrect, e.g. due to the course of infection or chronic inflammation. For this reason, it happens that they will be underestimated. And the hidden blood disease develops. Performing the examination with a smear gives a much more precise result and allows you to dispel any doubts.
Quick treatment
Rare diseases are serious conditions that are often life-threatening. If left untreated, acute myeloid leukemias kill patients within days or weeks. Their treatment depends on many prognostic factors, including mainly the presence of cytogenetic and molecular disorders. The prognosis of AML with FLT3 mutations is particularly poor. Due to frequent relapses, 5-year survival rates are only 15%. Also, myelofibrosis is a severe disease that can significantly shorten life. Complications include potentially life-threatening infections, bleeding, and transformation into acute myeloid leukemia. Traditional drugs used in this disease do not provide effective control of its course or symptoms, and do not extend survival. For several years, Polish patients have had access to high-quality targeted therapy.
– Hematology has made tremendous progress in the last two decades. Chronic myeloid leukemia not so long ago, 20 years ago, patients died on average three to five years after diagnosis. Currently, the mortality rate in this disease is comparable to that of the healthy population, with future life prospects reaching 20-30 years. These patients can even be cured pharmacologically. In turn, in myelofibrosis, the first drug in history appeared, which is able to stop the disease, and even reverse its symptoms and prolong life. It has been available in Poland since January 2017 as part of the so-called drug program – says Dr. Sacha.
However, drug programs do not fully meet the needs of either patients or physicians. Let us take the example of myelofibrosis, where the regulation consists in the fact that even if a patient is admitted to the drug program, the treatment may be discontinued due to a very strict criterion of treatment effectiveness. The limitation is that if the patient does not develop at least 50 percent within six months of treatment. spleen size reduction, the drug should be discontinued. This condition is not met by many patients with myelofibrosis. Drug programs are, according to Dr. Sacha, essentially a substitute for normal access to therapy, designed to limit, in many cases, the number of patients who could be treated with given drugs.
– The decision on how long the patient should take the drug should be made by the doctor, based on the course of the disease and the result of treatment, tolerance to the drug, as well as the patient’s quality of life. This is the case, for example, in Great Britain. In Poland, the provisions of drug programs with which there are no discussions are decisive, says Dr. Sacha.