Clinical manifestations and treatment of adult sickle cell disease

Abstract

Despite being a disease that stems primarily from abnormalities in the erythrocytes, clinical manifestations and complications of sickle cell disease are known to affect virtually all organs and systems in the human body. Chronic hemolytic anemia and a systemic infl ammatory state are the basic pathophysiological mechanisms that underlie the occurrence of both acute vaso-occlusive events (painfulepisodes, acute chest syndrome, priapism, stroke, etc.) and long-term end-organ damage (heart failure, chronic kidney disease, retinopathy, pulmonary hypertension, leg ulcers, osteoporosis, etc.). Adequate treatment for sickle cell disease in children with vaccination and prophylactic penicillin has allowed most of these patients to reach adulthood. Nevertheless, morbidity in the adult population is high, with many patients presenting with two or more vital organ complications by the age of 40. There is still room for improvement in the prevention, early diagnosis, and treatment of complications more frequently encountered by adult hematologists, and need for consultation with other subspecialties becomes a rule when caring for adult sickle cell patients. We review the clinical presentation, diagnosis, and management of the most relevant aspects of sickle cell disease in adults and summarize current treatment approaches, from supportive care with blood transfusions and hydroxyurea, to curative care with hematopoietic stem cell transplantation.