From the Guidelines
Pancytopenia is most commonly caused by bone marrow failure, medications, infections, and autoimmune disorders, with myelodysplastic syndrome being a significant contributor, as evident from the 2021 ESMO clinical practice guidelines for diagnosis, treatment, and follow-up 1. The causes of pancytopenia can be multifaceted, involving various systems and pathologies.
- Bone marrow failure syndromes, including aplastic anemia, myelodysplastic syndrome, and leukemia, directly impair the production of all blood cell lines, leading to pancytopenia.
- Medications such as chemotherapy agents, certain antibiotics (chloramphenicol, trimethoprim-sulfamethoxazole), antiepileptics (carbamazepine, valproate), and immunosuppressants can suppress bone marrow function, resulting in pancytopenia, as noted in the treatment guidelines for lower-risk MDS 1.
- Infections like HIV, hepatitis viruses, tuberculosis, and overwhelming bacterial infections can cause pancytopenia through direct bone marrow invasion or immune-mediated mechanisms.
- Autoimmune conditions such as systemic lupus erythematosus and rheumatoid arthritis may trigger immune destruction of blood cells, contributing to pancytopenia. Other causes include vitamin B12 or folate deficiency, hypersplenism (where an enlarged spleen sequesters blood cells), paroxysmal nocturnal hemoglobinuria, and alcohol abuse. When evaluating pancytopenia, a thorough medication review, complete blood count with peripheral smear, and bone marrow examination are often necessary to determine the underlying cause and guide appropriate treatment, as suggested by the guidelines for managing neutropaenia and thrombocytopaenia in lower-risk MDS 1. The management of pancytopenia should prioritize addressing the underlying cause, with treatments such as G-CSF for neutropaenia, and considerations for the use of thrombopoietin receptor agonists (TPO-RAs) in specific cases, although their use is currently restricted to clinical trials or registries due to safety concerns 1.
From the Research
Causes of Pancytopenia
Pancytopenia is a condition characterized by a reduction in the number of red blood cells, white blood cells, and platelets. The causes of pancytopenia can be varied and include:
- Idiopathic aplastic anemia 2
- Inherited bone marrow failure syndromes 2
- Drugs 2
- Infections 2
- Nutritional deficiencies 2
- Rheumatologic disease 2
- Myelodysplastic syndromes (MDS) 3, 4, 5
- Acute myeloid leukemia (AML) 4, 5
- Bone marrow transplantation 2, 3
Bone Marrow Failure Syndromes
Bone marrow failure syndromes (BMFS) are characterized by a failure of the hematopoietic stem cells to produce adequate blood cells, resulting in either cytopenia or pancytopenia. BMFS can be inherited or acquired 6. The pathogenesis of these diseases is very heterogeneous, and research efforts have been made to improve the basic knowledge of these diseases.
Diagnosis and Treatment
Diagnosis of pancytopenia often involves bone marrow biopsy and aspiration 5. Treatment of pancytopenia depends on the underlying cause and can include immunosuppressive therapy 2, 3, bone marrow transplantation 2, 3, and supportive care with blood and platelet transfusions 2, 3. In some cases, treatment with thrombopoietin (TPO) mimetics, such as romiplostim and eltrombopag, may be effective 3.