Diseases in which the bone marrow fails to make sufficient quantity of healthy blood cells is called Myelodysplastic.
What is Myelodysplastic syndrome (MDS)? Symptoms and Diagnosis
© 2010 Dr.P.Elayaraja
A group of diseases in which the bone marrow fails to make sufficient quantity of healthy blood cells is called Myelodysplastic syndromes (MDS). This is a rare disease of blood and bone marrow.
In normal conditions, the bone marrow produces stem cells for blood, which are further differentiate into two types. One is the lymphoid stem cell that develops into white blood cell or leukocytes. The other is the myeloid stem cell can develop any three types of mature blood cells, the red blood cells, white blood cells or platelets.
In patients with myelodysplastic syndromes, the stem cells fail to mature into healthy blood cells. Such immature blood cells are known as blasts, which do not function normally. The blasts die in the bone marrow itself or die soon after entering the blood stream. Infections, anaemia and bleeding occur due to unhealthy blood cells.
Classification of MDS
The French-American-British scientists were the first to classify the types of myelodysplastic syndromes.
- Refractory anemia (RA): The bone marrow contains less than 5% myeloblasts (stem cells) and abnormalities primarily seen in RBC precursors.
- Refractory anemia with ringed sideroblasts (RARS): The bone marrow contains less than 5% myeloblasts (stem cells), but the RBC precursors are more than 15%. Presence of abnormal iron-stuffed cells called “ringed sideroblasts” seen.
- Refractory anemia with excess blasts (RAEB): The bone marrow contains 5-20% myeloblasts.
- Refractory anemia with excess blasts in transformation (RAEB-T): The bone marrow contains 21-30% myeloblasts.
- Chronic myelomonocytic leukemia (CMML): The bone marrow contains less than 20% myeloblasts and more than 1000 * 109/uL monocytes circulating in the blood.
Diagnosis of MDS
Myelodysplastic syndromes should be differentiated from conditions such as anemia, thrombocytopenia and leukopenia. The investigation should include, full blood count, blood tests to eliminate other common causes and bone marrow examination through hematopathology. Diagnosis for cancer should be done according to the age groups in all anaemic patients. Chromosomal studies or cytogenetics (including karyotyping) can be performed on the marrow aspirate.
Signs and symptoms
Myelodysplastic syndromes generally affect people between 60 and 75 years. Males are more commonly affected than the females. Children are rarely diagnosed for MDS. People below the age of 50 are also rarely affected.
The signs and symptoms of MDS are not very specific and generally associated with cytopenias.
- Anemia with chronic tiredness and shortness of breathe, low neutrophil count (neutropenia) with susceptibility to diseases are the common signs.
- Thrombocytopenia with low platelet count can cause bleeding and subcutaneous haemorrhages.
- Abnormal granules in blood and chromosomal abnormalities are other symptoms of Myelodysplastic syndromes.
© 2010 Dr.P.Elayaraja