From the Guidelines
Aplastic anemia is commonly associated with conditions such as paroxysmal nocturnal hemoglobinuria (PNH), myelodysplastic syndrome (MDS), autoimmune disorders, solid tumors, hematologic malignancies, congenital conditions, and infections. These conditions share pathophysiological mechanisms involving immune dysfunction, genetic mutations affecting hematopoietic stem cells, or environmental triggers that damage bone marrow function. Some key associations include:
- PNH, which can occur in up to 50% of aplastic anemia patients 1
- MDS, which can develop in some patients, particularly those with certain genetic mutations 1
- Autoimmune disorders like systemic lupus erythematosus, rheumatoid arthritis, and thyroid disorders, which may coexist with aplastic anemia due to shared immune dysregulation mechanisms
- Solid tumors and hematologic malignancies, which can occur, especially in patients with inherited bone marrow failure syndromes
- Congenital conditions like Fanconi anemia, dyskeratosis congenita, and Shwachman-Diamond syndrome, which may underlie aplastic anemia, particularly in younger patients
- Infections, especially viral ones like hepatitis, HIV, and EBV, which can trigger or complicate aplastic anemia 1 It is essential to consider these associations when evaluating and managing patients with aplastic anemia, as they can impact treatment outcomes and quality of life.
From the Research
Conditions Associated with Aplastic Anemia
Aplastic anemia is a bone marrow failure syndrome that can lead to various life-threatening complications. The following conditions are commonly associated with aplastic anemia:
- Pancytopenia: a condition characterized by a reduction in the number of red blood cells, white blood cells, and platelets in the blood 2
- Severe neutropenia: a condition characterized by a low neutrophil count, which can increase the risk of infectious complications 3
- Myelodysplastic syndrome: a group of disorders caused by poorly formed or dysfunctional blood cells, which can increase the risk of developing acute myeloid leukemia 2, 3, 4
- Clonal evolution or progression to acute myeloid leukemia: a potential complication of aplastic anemia, particularly in patients treated with certain therapies 2, 5
- Infections: patients with aplastic anemia are at increased risk of developing infections due to severe neutropenia 3
- Bleeding complications: patients with aplastic anemia may experience bleeding complications due to thrombocytopenia, despite receiving prophylactic platelet transfusions 2
Underlying Causes of Aplastic Anemia
The underlying causes of aplastic anemia can include:
- Autoimmunity: the immune system attacks the bone marrow, leading to damage and dysfunction 5, 6
- Toxins: exposure to certain toxins, such as chemicals or radiation, can damage the bone marrow 5, 6
- Infections: certain infections, such as viral or bacterial infections, can trigger aplastic anemia 5, 6
- Ionizing radiation: exposure to ionizing radiation can damage the bone marrow and increase the risk of developing aplastic anemia 5, 6
- Drugs: certain medications can increase the risk of developing aplastic anemia 5, 6
- Rare genetic disorders: certain genetic disorders can increase the risk of developing aplastic anemia 5, 6