A Survey of Provider Practices for Diagnosis and Treatment of Pediatric Moderate Aplastic Anemia From the North American Pediatric Aplastic Anemia Consortium

Pediatric moderate aplastic anemia aplastic anemia: (ay-PLASS-tik uh-NEE_mee-uh) A rare and serious condition in which the bone marrow fails to make enough blood cells - red blood cells, white blood cells, and platelets. The term aplastic is a Greek word meaning not to form. Anemia is a condition that happens when red blood cell count is low. Most… (MAA) lacks defined diagnostic criteria and a clear standard of care due to limited understanding of its pathophysiology pathophysiology: Functional changes in the bodies that are associated with or result from disease or injury. and natural history. To understand current diagnostic and management practices for pediatric patients with MAA, a survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC) was conducted among 104 providers across 57 institutions. The survey results show that the approach to MAA remains inconsistent. The survey demonstrates broad variability regarding the working definition, diagnostic work-up, and therapeutic management of children with MAA. The diagnostic work-up and treatment options for children with MAA are largely driven by management guidelines for pediatric severe aplastic anemia (SAA). Treatment triggers and preferred therapy types varied widely among respondents. Curated next-generation sequencing panels and whole exome/whole genome sequencing were included by only 55% and 9% of respondents, respectively, suggesting the need to more broadly consider inherited bone marrow failure bone marrow failure: A condition that occurs when the bone marrow stops making enough healthy blood cells. The most common of these rare diseases are aplastic anemia, myelodysplastic syndromes (MDS) and paroxysmal nocturnal hemoglobinuria (PNH). Bone marrow failure can be acquired (begin any time in life) or can be… syndromes in the differential diagnosis of these patients. Based on the most commonly reported practices across NAPAAC institutions, we have included a proposed diagnostic and management algorithm in this manuscript. Effective, risk-adapted treatment for children with MAA requires a better understanding of the biology, natural history, and treatment outcomes in this heterogeneous population.