Distinguishing constitutional from acquired bone marrow failure in the hematology clinic

Distinguishing constitutional from immune bone marrow failure (BMF) has important clinical implications. However, the diagnosis is not always straightforward, and immune aplastic anemia, the commonest BMF, is a diagnosis of exclusion. In this review, we discuss a general approach to the evaluation of BMF, focusing on clinical presentations particular to immune and various constitutional disorders as well as the interpretation of bone marrow histology, flow cytometry, and karyotyping. Additionally, we examine the role of specialized testing in both immune and inherited BMF, and discuss genetic testing, both its role in patient evaluation and interpretation of results.

Automated summary

This review discusses the importance of distinguishing between constitutional and immune bone marrow failure, focusing on the evaluation methods for BMF and specific clinical presentations, as well as the interpretation of bone marrow histology, flow cytometry, and karyotyping. Specialized testing in immune and inherited BMF, as well as genetic testing, are also examined in terms of their roles in patient evaluation and result interpretation.