Myelodysplastic syndrome (bone marrow failure)

Description A syndrome where th...

Description

A syndrome where the stem cells in the bone marrow fail to develop normally into the white blood cells, red blood cells and platelets needed for normal bodily function. There is a range of severity with some patients experiencing serious low red blood cells, excessive bleeding, and an increase in infections. This disorder can be life threatening and in some cases it can progress to leukemia. The disease is most often seen in patients greater than 60 and is more common in men. The following conditions increase the risk of this disorder: previous treatment for cancer, a family history of the disease, smoking, and exposure to certain chemicals.

Symptoms

Fatigue, pin point reddish-purple skin blotches, frequent infections, easy bruising, shortness of breath, pale skin (anemia).

Tests

Common tests used for diagnosis and treatment

Workup:
A history and physical exam will be performed. Blood tests will be done to determine the number and types of blood cells. A bone marrow biopsy will be done to establish the diagnosis, evaluate the stem cells and look for cancers and genetic defects.

Tests:
Complete blood count (CBC)

Other Specific Tests: Bone marrow biopsy

Specialists:
Internal Medicine, Family Practice, Blood and Cancer Care (hematology and oncology)

Treatment

Therapy depends on the severity of disease and the chromosomal defect present but may include: erythropoietin or darbepoetin to stimulate red blood cell production, azacitidine (Vidaza) and decitabine (Dacogen) to stimulate stem cell transformation into mature cells, and lenalidomide (Revlimid) in cases with a specific chromosome abnormality. Other treatment options include: blood transfusion, chemotherapy and stem cell transplantation.