Myelodysplastic Syndromes (MDS) What? Myelodysplastic syndromes are a group of disorders caused by blood cells that are poorly formed or don’t work properly, leading to hypercellular bone marrow and peripheral blood cytopenias/Ineffective hematopoiesis. Who? • Mean age at Dx 70-75 years of age • 22 and 45 cases per 100,000 people older than age 70 years Symptoms: • Fatigue • Shortness of breath • Unusual paleness (pallor), which occurs due to a low red blood cell count (anemia) • Easy or unusual bruising or bleeding, which occurs due to a low blood platelet count (thrombocytopenia) • Pinpoint-sized red spots just beneath the skin that are caused by bleeding (petechiae) • Frequent infections, which occur due to a low white blood cell count (leukopenia) Peripheral Smear: • Dysplastic cells (hypogranular neutrophils and platelets) • MDS may involve one, two, or all three myeloid hematopoiesis cell lineages—erythrocytic, granulocytic, megakaryocytic Bone Marrow: • Hypercellular marrow with dysplastic erythroid precursors MDS carries a variable risk of transformation to AML that correlates with prognosis: 30% of patients. Most common cytopenia: Macrocytic anemia DDX: Rule Out Secondary Causes • Anemia • Aplastic Anemia • Bone Marrow Failure • Chronic Myelogenous Leukemia (CML) • Felty Syndrome • Hairy Cell Leukemia • Idiopathic Cytopenia of Undetermined Significance (ICUS) • Idiopathic Dysplasia of Undetermined Significance (IDUS) • Immune Thrombocytopenia (ITP) in Emergency Medicine • Megaloblastic Anemia • Myelophthisic Anemia • Myeloproliferative Disease • Neutropenia • Platelet Disorders • Nutritional: vitamin B12 or folic acid deficiency • Exposure to heavy metal or toxins (examples: arsenic compounds, alcohol, lead, benzene, zinc, isoniazid) • Antibiotics such as cotrimoxazol • Congenital dyserythropoietic anemia • Parvovirus infection • Immunosuppressive agents given to organ transplant patients (example: Mycophenolate) • Chemotherapeutic agents • Granulocyte colony stimulating factor (GCSF) treatments • Copper deficiency Myelodysplastic Syndrome Subtypes Include: • Myelodysplastic syndromes with single-lineage dysplasia: One blood cell type - white blood cells, red blood cells or platelets - is low in number and appears abnormal under the microscope. • Myelodysplastic syndromes with multilineage dysplasia: Two or three blood cell types are abnormal. • Myelodysplastic syndromes with ring sideroblasts: Low number of one or more blood cell types. A characteristic feature is that existing red blood cells in the bone marrow contain rings of excess iron. • Myelodysplastic syndromes with isolated del(5q) chromosome abnormality: Low numbers of red blood cells, and the cells have a specific mutation in their DNA. • Myelodysplastic syndromes with excess blasts: Any of the three types of blood cells - red blood cells, white blood cells or platelets - might be low and appear abnormal under a microscope. Very immature blood cells (blasts) are found in the blood and bone marrow. • Myelodysplastic syndromes, unclassifiable: Reduced numbers of one or more types of mature blood cells and the cells might look abnormal under the microscope. Sometimes the blood cells appear normal, but analysis might find that the cells have DNA changes that are associated with myelodysplastic syndromes. Workup: • Complete blood count with differential • Peripheral blood smear • Bone marrow studies Treatment: Goals: Treating symptomatic cytopenias and reducing the risk of progression to AML • Allogeneic hematopoietic stem cell transplantation is the only cure for myelodysplastic syndrome • Immunosuppressive treatment (examples: ATG and cyclosporine) • Growth factors (examples: G-CSF and erythropoietin) • DNA methyltransferase inhibitors (examples: azacitidine and decitabine) • Intensive chemotherapy #MDS #Myelodysplasia #Myelodysplastic #Syndromes #diagnosis #hematology #oncology
