Acute myeloid leukaemia (AML) is the most common type of acute leukaemia in adults. It is characterised by an aggressive course and low survival rates. Doctors stress that rapid diagnosis is one of the key factors determining treatment success. However, this is made more difficult by the disease’s non-specific symptoms, which are often underestimated. Patient organisations point to the important role of primary care physicians in early diagnosis and to the need for clear therapeutic pathways for people already diagnosed with the disease.
“Acute myeloid leukaemia occurs in around five cases per 100,000 people annually. Men are affected more often, and the median age at diagnosis is around 60,” said Prof. Piotr Rzepecki, head of the Department of Internal Medicine and Haematology at the Military Institute of Medicine – National Research Institute, in an interview with Newseria.
AML is the most common acute leukaemia in adults, accounting for around 80% of all cases of this type of cancer. The disease progresses aggressively, which is why the five-year survival rate is only about 25%. If left untreated, it can lead to death within just two to three months. Doctors emphasise that the effectiveness of therapy depends largely on how early it is introduced. This is complicated by the rapid course of the disease and its non-specific symptoms.
“These are general symptoms such as fatigue, weakness, bone and joint pain, drenching sweats, fever, symptoms of anaemia, as well as dizziness or frequent fainting. They also include symptoms resulting from reduced immunity, such as frequent infections, including fungal infections, recurrent tonsillitis, herpes and skin infections that do not heal,” said Dr Michał Sutkowski, president-elect of the College of Family Physicians in Poland.
He stressed that these symptoms should already raise concern both for the patient and their primary care doctor, especially as they usually do not occur separately but together. However, the symptoms that most often cause alarm are those indicating purpura, a type of bleeding disorder.
“These are red spots on the body, mainly on the skin, but also on mucous membranes. There are also symptoms resulting from infiltration of internal organs. These may include complaints imitating disorders of brain function, the central nervous system or the heart. In addition, enlarged lymph nodes may appear, and less commonly an enlarged spleen or liver. Symptoms may also include visual disturbances, tinnitus and dizziness, which in 5–20% of cases result from leukostasis, meaning a large number of blasts, abnormal leukocytes that are the essence of acute myeloid leukaemia,” explained Dr Sutkowski.
The expert noted that a correct diagnosis can often already be made by a family doctor. The basic diagnostic test is a complete blood count with a smear, preferably a manual one. This test is included in the basket of guaranteed services in primary healthcare.
“When a patient reaches hospital, they have a chance of effective treatment, returning to normal functioning and starting a new life. The situation is worse when the patient does not get there because either they or the primary care doctor miss something. The symptoms vary, and sometimes someone tells us we look unwell, a dentist notices inflammation in the mouth, or we wake up at night feeling hot, change clothes and experience drenching sweats. In theory, acute myeloid leukaemia produces flu-like symptoms, and sometimes we underestimate them ourselves. The most difficult thing for patients today is to be diagnosed, treated properly and receive maintenance therapy so they can continue functioning,” said Katarzyna Lisowska from the Per Humanus Foundation.
Genetic testing plays an important role in AML diagnostics. So far, scientists have identified several dozen mutations that affect a patient’s prognosis and determine the treatment process. Around 30% of AML patients have a mutation in the FLT3 gene, which has an adverse impact on prognosis. It is associated with a low remission rate, frequent relapses and shorter survival. The presence of this mutation is an indication for treatment intensification.
“This is why, in addition to classic chemotherapy, it is necessary to use therapies that counteract the unfavourable effects of this abnormality. In Poland, we have three such drugs available. Two of them are reimbursed under drug programmes,” explained Prof. Rzepecki.
In patients with an indication for bone marrow transplantation, the risk of disease relapse is 70–80%. After transplantation, it falls to 30–40%. If the disease returns after a bone marrow transplant, the patient undergoes further treatment. In such situations, off-label medicines may be used. These are modern targeted therapies that are already reimbursed for the treatment of relapsed acute myeloid leukaemia, but are not reimbursed for post-transplant treatment. According to Prof. Rzepecki, it would be beneficial if they were available under a drug programme. This situation applies, for example, to patients with the FLT3 mutation.
“Patients who contact us are primarily looking for information about available treatment, because these are people who already have a diagnosis and need modern therapies, centres they can turn to, and reliable knowledge. Treatment and its availability have changed significantly in recent years, and as a foundation we continuously update this knowledge,” said Katarzyna Lisowska.
