In many patients, MDS are asymptomatic and appear as an abnormality on a routine complete blood cell count (CBC) or as part of a workup for anemia. Symptoms develop as the bone marrow’s ability to produce normal-functioning blood cells is more and more compromised. The range of symptoms depends on the bone marrow cell type affected.
Patients with MDS typically have some degree of anemia, often detected incidentally on a routine CBC, or they have symptoms stemming from anemia or thrombocytopenia, or have recurrent infections.
MDS are not cancer themselves, but about 30% of the time the syndromes are a precursor to leukemias such as acute myeloid leukemia (AML) and chrome myelomonocytic leukemia (CMML).
Although MDS can affect people of all ages, the median age of onset is 65.
Myelodysplastic syndromes (MDS) are a group of closely related diseases that arise in the bone marrow from hematopoietic stem cells, the immature cells from which all blood cells develop. As a result, the bone marrow makes reduced numbers of red blood cells (which carry oxygen), white blood cells (which fight infection), or platelets (which prevent or stop bleeding), or any combination of the three. In addition, the cells in the blood and bone marrow (also called”myelo”) usually look abnormal (or “dysplastic”), hence the name “myelodysplastic” syndromes.
Primary and secondary MDS are defined by taking into account the prior patients history: previous treatments with chemotherapy, radiotherapy or professional exposure to toxic substances are defining secondary MDS (sMDS) or "primary" MDS. Cytogenetically, a difference between the two groups is the complexity of abnormal karyotypes since single chromosome aberrations are typical for primary MDS, while multiple changes are more frequently seen in secondary disorders.
Supportive therapy involves blood transfusions when symptoms develop and if frequency of transfusions increase to 1-2 every month, a trial of vitamins, androgens, or erythropoietin alone or in combination with immunomodulatory therapy may be indicated. Transfuse platelets when <10,000 or if the patient experiences bleeding or upcoming surgery is required. Granulocyte colony-stimulating factors or granulocyte-macrophage colony-stimulating factor has improved neutropenia but is historically not effective.
MDS is diagnosed by examining the blood and the bone marrow. First, blood tests are done where blood cell counts are measured and the appearance of blood cells are directly examined through the microscope. Second, bone marrow biopsy is done, where the bone marrow cells are directly examined for features of dysplasia (abnormal maturation), and special tests such as flow cytometry (which detects protein markers on the surface of the cells) and cytogenetics (studying the chromosomal structure of the cells) are carried out.
In myelodysplastic syndromes, the blood stem cells do not mature into healthy red blood cells, white blood cells, or platelets. The immature blood cells, called blasts, do not function normally and either die in the bone marrow or soon after they enter the blood. This leaves less room for healthy white blood cells, red blood cells, and platelets to develop in the bone marrow. When there are fewer blood cells, infection, anemia, or easy bleeding may occur.
Robin Roberts is facing another health scare.
The Good Morning America anchor revealed Monday that she is battling MDS, or myelodysplastic syndrome, a disease of the blood and bone marrow – and that she will have a bone-marrow transplant, with her sister as a donor.
"My doctors tell me I'm going to beat this – and I know it's true," Roberts, 51, writes in an emotional message to fans on the GMA website.
In general, MDS affects between 12,000 and 20,000 people in the United States each year, or 22 to 45 per 100,000 people older than 70 years. The population prevalence is estimated to be between 30,000 and 40,000 people in the United States, with most of them having indolent (early) MDS, generally defined as fewer than 5% myeloblasts in the bone marrow. These numbers make it as prevalent as other common hematologic malignancies of older adults, such as multiple myeloma and chronic lymphocytic leukemia.
Symptoms of MDS include anemia, fever, frequent infections and easy bleeding or bruising.
Robert's "Good Morning America" family cheered her on and gave their support following the announcement.
Co-anchor George Stephanopolous noted that Roberts shared her MDS diagnosis with her colleagues prior to Monday's public announcement and praised Roberts for how she went about her business.