Hematology

Aplastic Anemia song

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Aplastic Anemia

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Key points in this song10

Aplastic anemia results from destruction or suppression of pluripotent hematopoietic stem cells, leading to pancytopenia and a hypocellular bone marrow replaced by fat cells.
The most common cause is autoimmune T-cell–mediated destruction of stem cells; other causes include radiation, chemotherapy, benzene exposure, and viral infections (EBV, CMV, hepatitis).
Classic drug associations include chloramphenicol (most notorious), carbamazepine, NSAIDs, propylthiouracil, and sulfonamides.
Fanconi anemia is an autosomal recessive inherited aplastic anemia associated with DNA repair defects, short stature, café-au-lait spots, thumb/radial abnormalities, and increased risk of AML.
Patients present with symptoms of pancytopenia: fatigue and pallor (anemia), petechiae and bleeding (thrombocytopenia), and recurrent infections (neutropenia).
Bone marrow biopsy is the gold standard for diagnosis, showing a hypocellular marrow with greater than 70% fat cells and absent or markedly reduced hematopoietic precursors.
Paroxysmal nocturnal hemoglobinuria (PNH) is a key complication and association; loss of GPI-anchored proteins (CD55, CD59) makes RBCs susceptible to complement-mediated lysis.
First-line treatment for severe aplastic anemia in patients under 40 with a matched sibling donor is allogeneic hematopoietic stem cell transplantation (HSCT).
For patients without a matched donor or over 40, first-line treatment is immunosuppressive therapy with anti-thymocyte globulin (ATG) plus cyclosporine, often with eltrombopag added.
Aplastic anemia must be distinguished from myelodysplastic syndrome (MDS); both cause pancytopenia, but MDS shows a hypercellular or normocellular marrow with dysplastic cells, not a hypocellular fat-replaced marrow.