Myelodysplastic syndromes are genetic diseases that affect the bone marrow. Those suffering from these diseases have dysfunctional stem cells, unable to produce the right number of blood cells. This causes deficiency of red blood cells, white cells and platelets. In some cases it even leads to the development of acute myeloid leukemia.
Myelodysplastic syndromes affect about 1 person every 12,500 in Europe. The most affected are the elderly over 70 years, among which the rate rises to 1 person every 3,000. They are therefore caused by anomalies present in the DNA, which trigger the mutations within the stem cells. However, the precise mechanism is still unclear and largely unknown. It is thought that mutations may be related both to exposure to toxic substances and to congenital factors.
Diseases usually start from a few damaged haematopoietic stem cells. These multiply and produce new abnormal cells. Sick cells can not produce specialized mature cells. This leads to a progressive decrease of the blood cells and an impoverishment of the organism.
It happens that the diagnosis takes place before the onset of symptoms, thanks to random blood tests. However, most patients perform analyzes when they start to feel that something is wrong. Symptoms are usually linked to the lack of a particular group of cells.
Many patients complain of weakness and difficulty breathing, related to the low number of red blood cells. Others are affected by recurrent bacterial infections caused by white blood cell deficiency. Lack of platelets, on the other hand, causes bruises, blood loss and bleeding gums. In about 15% of cases there is also an enlarged liver, spleen and lymph nodes.