A comprehensive review of management approaches for childhood sickle cell disease (SCD), focused on neonatal screening implementation, common complications, and current standard treatment, drew a primary conclusion that improvements in the care of patients transitioning from pediatric to adult patients is needed to reduce young adult mortality and hospital costs.
The review article, titled “Novel insights in the management of sickle cell disease in childhood,” was published in the World Journal of Clinical Pediatrics.
The report was prepared by Lorenzo Iughetti and Elena Bigi, of the Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, at the University of Modena, and Donatella Venturelli, of the Transfusion Medicine Department, University Hospital of Modena, in Italy.
Sickle cell disease (SCD), an inherited red blood cell disorder, is caused by a single-point mutation that leads to the creation of the abnormal sickle hemoglobin (HbS). Although severe complications can affect children with SCD, thanks to the advancements of multidisciplinary care almost all child patients progress into adulthood. Care interventions that include newborn screening, prophylaxis with penicillin, immunization against important pathogens, advances in supportive care, and increased use of disease modifying treatments, all contribute to survival.
Bacterial infection is the primary cause of death among children but survival improvement overall for children with SCD has been the introduction of neonatal screening, antibacterial prophylaxis, and immunization against streptococcus pneumoniae and haemophilus influenzae. Preventive treatment with penicillin has been proved to be associated with reducing incidence of pneumococcal infections in children with SCD.
Complications associated with SCD include vaso-occlusive crisis (VOC), a painful complication and the first cause of hospitalization for both children and adults. Other complications include acute chest syndrome and neurological complications, such as cerebral infarct, stroke, and intracranial bleeding.
The risk of stroke recurrence is extremely high, about 60%-90% in the absence of secondary preventive measures. Such measures include chronic blood transfusions; use of hydroxyurea, the only medication approved for treatment of SCD by the United States Food and Drug administration and by the European Medicines Agency; and hematopoietic stem-cell transplantation (HSCT), the only curative treatment for patients affected by severe SCD.
The growing rate of children with SCD who reach adulthood has not been accompanied by an adequate increase in medical experts trained to treat older patients, which has translated into a delay in the transition from adolescent to adult care. Several epidemiological studies indicate that mortality and morbidity are increased in young adults. Furthermore, most patients report feelings of not being prepared for transition into adult care.
The authors wrote: “Identification of a designated adult SCD provider and enhanced early education of all pediatric SCD patients regarding the need to continue comprehensive care in the adult setting is imperative for a successful transition from pediatric to adult care.”