Differential Diagnosis for Myelodysplastic Syndromes (MDS)

Single Most Likely Diagnosis

• Myelodysplastic Syndromes (MDS): This is the most likely diagnosis given the context of the question. MDS is a group of disorders caused by poorly formed or dysfunctional blood cells, typically leading to anemia, infections, and/or bleeding.

Other Likely Diagnoses

• Acute Myeloid Leukemia (AML): AML can present similarly to MDS, with anemia, thrombocytopenia, and leukopenia, but it is characterized by a higher percentage of blasts in the bone marrow or blood.
• Aplastic Anemia: This condition is characterized by a failure of the bone marrow to produce blood cells, leading to anemia, infections, and bleeding, similar to MDS.
• Myeloproliferative Neoplasms (MPNs): MPNs, such as essential thrombocythemia, polycythemia vera, and primary myelofibrosis, can sometimes present with similar cytopenias due to bone marrow fibrosis or other mechanisms.

Do Not Miss Diagnoses

• Paroxysmal Nocturnal Hemoglobinuria (PNH): A rare, acquired, life-threatening disease of the blood characterized by the destruction of red blood cells, bone marrow failure, and the potential for thrombotic events. It can mimic MDS in its presentation.
• Large Granular Lymphocytic (LGL) Leukemia: This is a rare disorder that can cause cytopenias similar to MDS and is important to diagnose due to its distinct treatment approach.
• Vitamin Deficiency (B12 or Folate): Deficiencies in vitamin B12 or folate can lead to megaloblastic anemia, which might be confused with the anemia seen in MDS. These deficiencies are easily treatable and thus crucial to identify.

Rare Diagnoses

• Shwachman-Diamond Syndrome: A rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature. It can present with cytopenias similar to MDS.
• Dyskeratosis Congenita: A rare genetic disorder characterized by the triad of mucocutaneous signs (oral leukoplakia, nail dystrophy, and reticulated skin hyperpigmentation), bone marrow failure, and an increased risk of malignancy.
• GATA2 Deficiency: A rare genetic disorder that can lead to immunodeficiency, myelodysplasia, and an increased risk of myeloid malignancies, presenting similarly to MDS in some cases.