Myelodysplastic syndrome, blood disease due to lack of stem cell maturation

Myelodysplastic syndromes include a series of diseases characterized by a defect in the maturation of bone marrow stem cells to produce blood cells that are unable to perform their usual functions and are less than normal in quantity. This alteration can affect either a single hematological line or all three blood production lines (red blood cells, white blood cells and platelets). On some occasions it can originate from a genetic alteration, as occurs in Fanconi’s anemia, or be due to an acquired disorder secondary to radio-chemotherapy treatment, and evolve over the years into acute leukemia (acute post-myelodysplastic leukemia), in which case it is a poor prognostic factor for the evolution of leukemia.

Incidence of Myelodysplastic Syndrome

The incidence of myelodysplastic syndrome increases with age, the average age being 70 years, and only about 10% of patients are younger than 50 years old. It is also more common in men than in women. Between 30 and 50 new cases are diagnosed per million inhabitants per year in Spain.

Signs and symptoms produced by Myelodysplastic Syndromes

MDS may not cause symptoms for years and when they appear they are totally unspecific, as they can be observed in many other diseases. The main manifestations are produced by red blood cell deficiency (weakness, tiredness, dizziness, palpitations) or by platelet deficiency or malfunction (hematomas, hemorrhages in various locations) or leukocyte deficiency (fever and frequent infections). Occasionally the patient may experience abdominal discomfort as a result of the enlarged spleen or liver.
Consult your doctor if you present:
– Shortness of breath.
– Weakness or feeling tired.
– Skin paler than normal.
– Easy bruising or bleeding.
– Petechiae (flat spots under the skin caused by bleeding).

Myelodysplastic Syndrome Classification

Myelodysplastic syndrome has multiple variants, among them:
– Refractory anemia: the number of red blood cells in the blood is too low and the patient presents with anemia. The number of white blood cells and platelets is normal.

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– Refractory anemia with ring sideroblasts: the number of red blood cells in the blood is too low and the patient is anemic. The red blood cells have too much iron in them. The number of white blood cells and platelets is normal.

– Refractory anemia with excess blasts: the number of red blood cells in the blood is too low and the patient is anemic. Between 5 and 19% of the cells in the bone marrow are blasts. Changes in white blood cells and platelets may also occur. Refractory anemia with excess blasts may progress to acute myeloid leukemia (AML).

– Refractory cytopenia with multilineage dysplasia: the number of at least two types of blood cells (red blood cells, platelets or white blood cells) is too low. Less than 5% of the cells in the bone marrow are blasts and less than 1% of the cells in the blood are blasts. If red blood cells are affected they may have an extra amount of iron. Refractory cytopenia can progress to acute myeloid leukemia (AML).

– Refractory cytopenia with unilineage dysplasia: the number of one type of blood cell (red blood cells, platelets or white blood cells) is too low. There are changes in 10% or more of the other two blood cell types. Less than 5% of the bone marrow cells are blasts and less than 1% of the blood cells are blasts.

– Unclassifiable myelodysplastic syndrome: the number of blasts in the bone marrow and blood is normal and the disease is different from the other myelodysplastic syndromes.

– Myelodysplastic syndrome related to an isolated abnormality in the 5q chromosome: the number of red blood cells in the blood is too low and the patient is anemic. Less than 5% of the cells in the bone marrow and blood are blasts. There is a specific change in the chromosome.

– Chronic myelomonocytic leukemia (CMML)