Child with Suspected Aplastic Anemia

Acquired aplastic anemia (aAA) is a rare blood disorder affecting 2-8 individuals per million people per year in the United States. Severe Aplastic Anemia is the most severe manifestation of this disorder and results in life-threatening failure of the bone marrow to produce red blood cells, platelets and white blood cells. Without treatment, severe aplastic anemia is often a fatal disease due to complications including infection, hemorrhage, and organ dysfunction due to severe anemia. Additionally 10-20% of patients with aAA will go on to develop myelodysplastic syndrome (MDS), a precancerous condition that can lead to the development of leukemia. Additional patients may develop a clonal disease known as paroxysmal nocturnal hemoglobinuria, which predisposes to thrombosis (blood clots) and kidney injury due to instability of circulating blood cells and intravascular hemolysis.

Fortunately with modern approaches to therapy, more than 90% of patients can be cured either through the use of immune suppression therapy or through hematopoietic stem cell transplantation. Treatment algorithms have been developed for which therapy approach should be attempted first based on the availability of well-matched donors for transplant. New, innovative approaches to transplant therapy for patients who don’t have well matched donors, as well as recently tested drugs that can improve blood cell production, hold future promise of improving therapy outcomes and decreasing therapy toxicities. However, one of the most critical aspects determining outcome for patients with aAA is prompt initial diagnosis and thorough evaluation for alternative causes of bone marrow failure, which if identified, require a distinct approach to treatment.