Myelodysplastic syndrome (bone marrow failure)

Arms | Orthopaedics | Myelodysplastic syndrome (bone marrow failure) (Disease)


Normally, the bone marrow produces all of the blood cells that the body needs. Myelodysplastic syndrome (MDS) is a rare disease that results in improper and insufficient blood cell formation. Most of the time, it develops in older patients (over 60 years old), but it can occur at any age and affect children as well.

Causes and Risk factors

MDS occurs when the bone marrow does not properly produce sufficient numbers of healthy red blood cells, white blood cells and platelets. MDS may be hereditary or caused by another event or illness, but often there is no known cause.

MDS used to be called “smoldering leukemia” or “pre-leukemia,” but only about one-third of cases of MDS actually progress to leukemia.

MDS is very rare in children, and children get different types of MDS than adults. It only occurs in 4 out of every million children.

MDS develops when a clonal mutation predominates in the bone marrow, suppressing healthy stem cells. The clonal mutation may result from genetic predisposition or from hematopoietic stem cell injury caused by exposure to any of the following: cytotoxic chemotherapy, radiation, viral infection, genotoxic chemicals (e. g. benzene).

In the early stages of MDS, the main cause of cytopenias is increased apoptosis (programmed cell death). As the disease progresses and converts into leukemia, further gene mutation occurs, and a proliferation of leukemic cells overwhelms the healthy marrow. In some patients, MDS is an indolent disease. In others, the disease follows an aggressive course and converts into an acute form of leukemia.

Diagnosis and Treatment

Treatment depends on the severity of disease and the chromosomal defect present but may include: erythropoietin or darbepoetin to stimulate red blood cell production, azacitidine and decitabine to stimulate stem cell transformation into mature cells, and lenalidomide in cases with a specific chromosome abnormality. Other treatment options include: blood transfusion, chemotherapy. In most instances, the only cure for MDS is a stem cell transplant. ...

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