Sickle Cell Disease and Acute Chest Syndrome: Epidemiology, Diagnosis, Management, Outcomes

Abstract

Sickle cell disease (SCD) is one of the most common monogenetic diseases worldwide and is attributable to significant morbidity and mortality. Mutations causing abnormal hemoglobin formation in this disease lead to structural abnormalities and cumulative damage to the cellular membrane of sickled erythrocytes. Polymerization and aggregation of these cells within the microvasculature results in severe vaso-occlusive pain crisis, chronic hemolytic anemia, and multiorgan pathology in patients. Pulmonary manifestations of SCD, including the acute chest syndrome (ACS), are a leading cause of hospitalization and mortality. ACS is a severe type of acute lung injury, defined as the development of a new pulmonary infiltrate, involving at least one complete lung segment, that is accompanied by fever, chest pain, tachypnea, wheezing, or cough in a patient with SCD. The etiology of ACS is multifactorial, with the most common mechanisms including infection, fat and bone marrow embolism, and direct microvascular vaso-occlusion. Despite recent advances in our understanding of the pathogenesis and clinical management of ACS in SCD, patient outcomes remain unacceptably poor. This chapter reviews the epidemiology, diagnosis, management, and outcomes of ACS in SCD. Proper screening, a high index of clinical suspicion, and immediate clinical care for this condition are pivotal for improving patient outcomes.