Aplastic anemia: A person-centered approach to diagnosis and treatment

Aplastic anemia (AA) is an inherited, idiopathic, or acquired syndrome of bone marrow failure characterized by pancytopenia and ineffective hematopoiesis. Diagnosis, while crucial, is often difficult due to required exclusion of numerous inherited or acquired diseases with similar phenotypes. Mortality from severe AA without treatment approaches 70% within 2 years. The diagnostic algorithm for AA has increased in complexity, now incorporating molecular and genetic testing, and AA treatment guidelines have evolved to optimize patient outcomes. For individuals younger than age 50 years, a matched sibling allogeneic hematopoietic stem cell transplant remains the treatment of choice, and possible cure, for AA. For those without a donor, immunosuppressive therapy (IST) utilizing equine antithymocyte globulin, cyclosporine A, and eltrombopag is the mainstay of treatment. This article explores updated AA guidelines, covering presentation, diagnostic workup, differential diagnosis, IST, supportive care, and monitoring for appropriate dosing and adverse events.