Painting the road in sickle cell disease Addressing the burden of pain

Sickle cell disease (SCD) is an inherited hemoglobinopathy that affects millions of people worldwide with increasing prevalence. SCD results in a substantial burden with progressive organ damage and recurrent painful crises (vaso-occlusive crises; VOCs). While hematopoietic stem cell transplantation and gene therapy are emerging options, they are not accessible to most patients with SCD. Therefore, insight in the most prevalent complications and organ damage as well as effective pain management strategies are urgently needed. This thesis provides an overview of the morbidity and mortality in an unselected cohort of newly diagnosed patients with SCD and addresses pain in SCD from different perspectives, including epidemiology, impact on quality of life, methods for identifying, monitoring and predicting pain, and management strategies.
Chapter 2 provided an overview of morbidity and mortality in a national cohort of neonatally diagnosed children with SCD in the Netherlands. Chapter 3 examined the impact of hospitalization for VOCs on health-related quality of life. In Chapter 4, we leveraged the Apple Watch to predict pain scores in adults with SCD who were admitted to the day hospital for VOC using machine learning techniques. Chapter 5 extended this study to cover both hospital admission and the 30-day period following discharge. In Chapter 6, we explored the use of breath analysis as a diagnostic tool to differentiate between VOC and steady state in patients with SCD. Finally, Chapter 7 summarized evidence for non-pharmacological interventions as complementary options for managing pain in children with SCD.