How is MDS diagnosed?

MDS is generally diagnosed when a patient is evaluated for low blood counts, although in some MDS patients, the white blood count, platelet count, or both may be elevated. The hallmark feature of MDS is a bone marrow aspirate and biopsy that reveals heavy infiltration with abnormal-looking bone marrow cells.

What is early stage MDS?

Sometimes this is found on blood tests, even before symptoms appear. In other cases, symptoms related to shortages of one or more types of blood cells (cytopenias) are the first sign of MDS: Having too few red blood cells (anemia) can lead to feeling tired, dizzy, or weak, as well as shortness of breath and pale skin.

When do you suspect MDS?

-Cases with the features of MDS-MLD and 2 to 4 percent blasts in blood, and no Auer rods should be classified as MDS with excess blasts-1, even with <5 percent blasts in bone marrow; cases with 5 to 19 percent blasts in blood and/or Auer rods should be classified is MDS with excess blasts-2, even with <5 percent marrow …

Does blood test show myelodysplastic syndrome?

Blood Tests to Diagnose MDS Abnormalities in this test provide the first sign of the disease. In MDS, red blood cell levels may be low, which causes anemia. Platelet levels may also be low, which can cause bleeding and bruising. Low white blood cell levels may lead to infections.

How often is MDS misdiagnosed?

Preliminary results from a national registry. Preliminary data from a national registry shows that as many as 40 percent of patients diagnosed with myelodysplastic syndromes (MDS) don’t actually have the disorder.

What lab values indicate MDS?

For a diagnosis of MDS, a patient must have less than 20\% blasts in the bone marrow and blood. A patient who has more than 20\% blasts is considered to have acute myeloid leukemia (AML).

What can be mistaken for MDS?

MDS needs to be separated from numerous neoplastic and non-clonal hematologic disorders that can mimic MDS, including other myeloid neoplasms, nutritional deficiencies, toxin exposures, aplastic anemia, and inherited disorders (e.g., congenital sideroblastic anemia).

Is MDS ever misdiagnosed?

However, half of MDS patients present a normal karyotype and are at risk for misdiagnosis. This is especially true for MDS patients with copy-neutral loss of heterozygosity or cnLOH. Each individual possesses two copies of each chromosome, one inherited from each parent.