Myelodysplastic syndromes are bone marrow cancers in which abnormal stem cells make blood cells that are faulty and too few, so one or more blood counts fall. They mostly affect older adults or people treated before with chemotherapy or radiation, and some cases progress to acute myeloid leukemia.
Key symptoms
- Fatigue, weakness and shortness of breath from anemia
- Frequent or slow-to-clear infections
- Easy bruising, petechiae or bleeding gums
- Often found on a routine blood count with no symptoms
What you find on exam
- Pallor
- Petechiae and bruises
- Signs of infection
- Spleen usually not enlarged; a large spleen suggests another diagnosis
Tests
- Blood count: anemia, often with a high MCV, and low white cells or platelets
- Peripheral smear: abnormal-looking cells, poorly granulated neutrophils, blasts
- Rule out B12, folate and copper deficiency, alcohol, drugs and HIV
- Bone marrow biopsy with cytogenetics and mutation tests; risk score (IPSS-R or IPSS-M)
Treatment basics
- Lower-risk disease: red cell transfusions and erythropoiesis-stimulating agents
- Luspatercept for transfusion-dependent anemia in selected patients; lenalidomide for del(5q)
- Higher-risk disease: hypomethylating agents such as azacitidine or decitabine
- Allogeneic stem cell transplant is the only cure, for fit higher-risk patients
- Iron chelation after many transfusions; treat infections promptly
Red flags
- Fever with a low neutrophil count
- Serious bleeding or very low platelets
- Rising blasts in the blood: transformation to acute leukemia
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Sources: NCCPA PANCE Content Blueprint; NBOME COMLEX-USA clinical presentations; AAMC Core Entrustable Professional Activities (Core EPAs). Written by Making Synapses. Making Synapses is not affiliated with these organizations.